Canonical Allele Identifier: CA2843218571

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89745054dup , CM000678.2:g.89745054dup	GRCh38
NC_000016.9:g.89811462dup , CM000678.1:g.89811462dup	GRCh37
NC_000016.8:g.88338963dup	NCBI36
NG_011706.1:g.76605dup , LRG_495:g.76605dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2010dup	ENSP00000512522.1:n.*2010dup
ENST00000564475.6:c.3532dup	ENSP00000454977.2:p.Glu1178GlyfsTer?
ENST00000567510.2:c.2102dup	ENSP00000455969.1:n.2102dup
ENST00000568369.6:c.3532dup	ENSP00000456829.1:p.Glu1178GlyfsTer?
ENST00000568983.6:n.551dup
ENST00000696274.1:n.3493dup
ENST00000696275.1:c.*2767dup	ENSP00000512517.1:n.*2767dup
ENST00000696286.1:c.3532dup	ENSP00000512523.1:p.Glu1178GlyfsTer?
ENST00000696287.1:c.3403dup	ENSP00000512524.1:p.Glu1135GlyfsTer?
ENST00000696291.1:c.*2964dup	ENSP00000512530.1:n.*2964dup
ENST00000389301.8:c.3532dup MANE Select	ENSP00000373952.3:p.Glu1178GlyfsTer?
ENST00000305699.15:n.775dup
ENST00000389301.7:c.3532dup	ENSP00000373952.3:p.Glu1178GlyfsTer?
ENST00000561660.1:c.736dup
ENST00000567879.5:c.10dup	ENSP00000457006.1:p.Glu4GlyfsTer?
ENST00000567988.5:c.784dup
ENST00000568369.5:c.3532dup	ENSP00000456829.1:p.Glu1178GlyfsTer?
ENST00000568626.1:c.380dup
ENST00000568983.5:n.360dup
NM_000135.2:c.3532dup , LRG_495t1:c.3532dup	NP_000126.2:p.Glu1178GlyfsTer?
NM_001286167.1:c.3532dup	NP_001273096.1:p.Glu1178GlyfsTer?
XM_005256294.3:c.3532dup	XP_005256351.1:p.Glu1178GlyfsTer?
XM_011522945.1:c.3403dup	XP_011521247.1:p.Glu1135GlyfsTer?
XM_011522946.1:c.2509dup	XP_011521248.1:p.Glu837GlyfsTer?
XM_011522947.1:c.2509dup	XP_011521249.1:p.Glu837GlyfsTer?
XR_933244.1:n.3575dup
XR_933245.1:n.3575dup
XR_933246.1:n.3402dup
NM_000135.3:c.3532dup	NP_000126.2:p.Glu1178GlyfsTer?
NM_001286167.2:c.3532dup	NP_001273096.1:p.Glu1178GlyfsTer?
XM_005256294.4:c.3532dup	XP_005256351.1:p.Glu1178GlyfsTer?
XM_011522945.2:c.3403dup	XP_011521247.1:p.Glu1135GlyfsTer?
XM_011522946.3:c.2509dup	XP_011521248.1:p.Glu837GlyfsTer?
XM_011522947.2:c.2509dup	XP_011521249.1:p.Glu837GlyfsTer?
XM_017023044.2:c.3403dup	XP_016878533.1:p.Glu1135GlyfsTer?
XM_024450189.1:c.2509dup	XP_024305957.1:p.Glu837GlyfsTer?
XR_001751866.1:n.3402dup
XR_933244.2:n.3575dup
XR_933245.2:n.3575dup
NM_000135.4:c.3532dup MANE Select	NP_000126.2:p.Glu1178GlyfsTer?
NM_001286167.3:c.3532dup	NP_001273096.1:p.Glu1178GlyfsTer?