Transcript #00000069

Transcript name Fanconi anemia, complementation group A, transcript variant 1
Gene name FANCA (FA complementation group A)
Chromosome 16
Transcript - NCBI ID NM_000135.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000126.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

594 entries on 6 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-28C>T r.(=) p.(=)
./. - c.-21G>A r.(=) p.(=)
./. - c.20C>A r.(?) p.(Pro7Gln)
./. - c.50_51insG r.(?) p.(Arg18Profs*19)
./. - c.59G>A r.(?) p.(Arg20Lys)
./. - c.59G>A r.(?) p.(Arg20Lys)
./. - c.59G>A r.(?) p.(Arg20Lys)
./. - c.59G>A r.(?) p.(Arg20Lys)
./. - c.59G>A r.(?) p.(Arg20Lys)
./. - c.79+21_79+43del r.(=) p.(=)
./. - c.80-48C>G r.(=) p.(=)
./. - c.80-48C>G r.(=) p.(=)
./. - c.80-16C>T r.(=) p.(=)
./. - c.80-13C>T r.(=) p.(=)
./. - c.80-13C>T r.(=) p.(=)
./. - c.80-13C>T r.(=) p.(=)
./. - c.80-13C>T r.(=) p.(=)
./. - c.80-13C>T r.(=) p.(=)
./. - c.80-13C>T r.(=) p.(=)
./. - c.80-13C>T r.(=) p.(=)
./. - c.80-13C>T r.(=) p.(=)
./. - c.80-13C>T r.(=) p.(=)
./. - c.80-13C>T r.(=) p.(=)
./. - c.80-13C>T r.(=) p.(=)
./. - c.80-13C>T r.(=) p.(=)
./. - c.80-13C>T r.(=) p.(=)
./. - c.80-13C>T r.(=) p.(=)
./. - c.80-13C>T r.(=) p.(=)
./. - c.80-13C>T r.(=) p.(=)
./. - c.80-13C>T r.(=) p.(=)
./. - c.80-13C>T r.(=) p.(=)
./. - c.80-13C>T r.(=) p.(=)
./. - c.80-13C>T r.(=) p.(=)
./. - c.80-13C>T r.(=) p.(=)
./. - c.80-13C>T r.(=) p.(=)
./. - c.81G>A r.(=) p.(=)
./. - c.81G>A r.(=) p.(=)
./. - c.81G>A r.(=) p.(=)
./. - c.90C>G r.(=) p.(=)
./. - c.189+20C>A r.(=) p.(=)
./. - c.240_241del r.(?) p.(Cys80*)
./. - c.342C>T r.(=) p.(=)
./. - c.342C>T r.(=) p.(=)
./. - c.344G>A r.(?) p.(Gly115Glu)
./. - c.344G>A r.(?) p.(Gly115Glu)
./. - c.371T>G r.(?) p.(Ile124Ser)
./. - c.377C>G r.(?) p.(Thr126Arg)
./. - c.377C>G r.(?) p.(Thr126Arg)
./. - c.377C>G r.(?) p.(Thr126Arg)
./. - c.377C>G r.(?) p.(Thr126Arg)
./. - c.377C>G r.(?) p.(Thr126Arg)
./. - c.377C>G r.(?) p.(Thr126Arg)
./. - c.386C>G r.(?) p.(Ala129Gly)
./. - c.386C>T r.(?) p.(Ala129Val)
./. - c.426+14A>G r.(=) p.(=)
./. - c.426+32C>A r.(=) p.(=)
./. - c.426+32C>A r.(=) p.(=)
./. - c.426+32C>A r.(=) p.(=)
./. - c.426+32C>A r.(=) p.(=)
./. - c.426+32C>A r.(=) p.(=)
./. - c.500G>A r.(?) p.(Cys167Tyr)
./. - c.522+29C>T r.(=) p.(=)
./. - c.522+30C>A r.(=) p.(=)
./. - c.522+39A>C r.(=) p.(=)
./. - c.523-43G>T r.(=) p.(=)
./. - c.528T>C r.(=) p.(=)
./. - c.537T>G r.(=) p.(=)
./. - c.537T>G r.(=) p.(=)
./. - c.543G>A r.(=) p.(=)
./. - c.549G>T r.(?) p.(Trp183Cys)
./. - c.549G>T r.(?) p.(Trp183Cys)
./. - c.549G>T r.(?) p.(Trp183Cys)
./. - c.549G>T r.(?) p.(Trp183Cys)
./. - c.572T>G r.(?) p.(Val191Gly)
./. - c.694A>C r.(=) p.(=)
./. - c.694A>C r.(=) p.(=)
./. - c.694A>C r.(=) p.(=)
./. - c.694A>C r.(=) p.(=)
./. - c.694A>C r.(=) p.(=)
./. - c.694A>C r.(=) p.(=)
./. - c.694A>C r.(=) p.(=)
./. - c.694A>C r.(=) p.(=)
./. - c.694A>C r.(=) p.(=)
./. - c.694A>C r.(=) p.(=)
./. - c.709+41T>C r.(=) p.(=)
./. - c.709+51T>C r.(=) p.(=)
./. - c.737G>A r.(?) p.(Gly246Glu)
./. - c.767C>A r.(?) p.(Thr256Asn)
./. - c.792+13G>A r.(=) p.(=)
./. - c.792+28T>C r.(=) p.(=)
./. - c.792+28T>C r.(=) p.(=)
./. - c.792+45C>T r.(=) p.(=)
./. - c.793-9T>C r.(=) p.(=)
./. - c.793-9T>C r.(=) p.(=)
./. - c.837C>T r.(=) p.(=)
./. - c.869C>A r.(?) p.(Ser290Tyr)
./. - c.869C>A r.(?) p.(Ser290Tyr)
./. - c.869C>A r.(?) p.(Ser290Tyr)
./. - c.869C>A r.(?) p.(Ser290Tyr)
./. - c.869C>A r.(?) p.(Ser290Tyr)
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