Canonical Allele Identifier: CA2635019010

Gene: FANCA

Linked Data

• gnomAD v4: 16-89744959-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89744960dup , CM000678.2:g.89744960dup	GRCh38
NC_000016.9:g.89811368dup , CM000678.1:g.89811368dup	GRCh37
NC_000016.8:g.88338869dup	NCBI36
NG_011706.1:g.76698dup , LRG_495:g.76698dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2103dup	ENSP00000512522.1:n.*2103dup
ENST00000564475.6:c.3625dup	ENSP00000454977.2:p.Asp1209GlyfsTer6
ENST00000567510.2:c.2195dup	ENSP00000455969.1:n.2195dup
ENST00000568369.6:c.3625dup	ENSP00000456829.1:p.Asp1209GlyfsTer6
ENST00000568983.6:n.644dup
ENST00000696274.1:n.3586dup
ENST00000696275.1:c.*2860dup	ENSP00000512517.1:n.*2860dup
ENST00000696286.1:c.3625dup	ENSP00000512523.1:p.Asp1209GlyfsTer6
ENST00000696287.1:c.3496dup	ENSP00000512524.1:p.Asp1166GlyfsTer6
ENST00000696291.1:c.*3057dup	ENSP00000512530.1:n.*3057dup
ENST00000389301.8:c.3625dup MANE Select	ENSP00000373952.3:p.Asp1209GlyfsTer6
ENST00000305699.15:n.868dup
ENST00000389301.7:c.3625dup	ENSP00000373952.3:p.Asp1209GlyfsTer6
ENST00000564969.5:n.49dup
ENST00000567879.5:c.103dup	ENSP00000457006.1:p.Asp35GlyfsTer6
ENST00000567988.5:c.877dup
ENST00000568369.5:c.3625dup	ENSP00000456829.1:p.Asp1209GlyfsTer6
ENST00000568626.1:c.473dup
ENST00000568983.5:n.453dup
NM_000135.2:c.3625dup , LRG_495t1:c.3625dup	NP_000126.2:p.Asp1209GlyfsTer6
NM_001286167.1:c.3625dup	NP_001273096.1:p.Asp1209GlyfsTer6
XM_005256294.3:c.3625dup	XP_005256351.1:p.Asp1209GlyfsTer6
XM_011522945.1:c.3496dup	XP_011521247.1:p.Asp1166GlyfsTer6
XM_011522946.1:c.2602dup	XP_011521248.1:p.Asp868GlyfsTer6
XM_011522947.1:c.2602dup	XP_011521249.1:p.Asp868GlyfsTer6
XR_933244.1:n.3668dup
XR_933245.1:n.3668dup
XR_933246.1:n.3495dup
NM_000135.3:c.3625dup	NP_000126.2:p.Asp1209GlyfsTer6
NM_001286167.2:c.3625dup	NP_001273096.1:p.Asp1209GlyfsTer6
XM_005256294.4:c.3625dup	XP_005256351.1:p.Asp1209GlyfsTer6
XM_011522945.2:c.3496dup	XP_011521247.1:p.Asp1166GlyfsTer6
XM_011522946.3:c.2602dup	XP_011521248.1:p.Asp868GlyfsTer6
XM_011522947.2:c.2602dup	XP_011521249.1:p.Asp868GlyfsTer6
XM_017023044.2:c.3496dup	XP_016878533.1:p.Asp1166GlyfsTer6
XM_024450189.1:c.2602dup	XP_024305957.1:p.Asp868GlyfsTer6
XR_001751866.1:n.3495dup
XR_933244.2:n.3668dup
XR_933245.2:n.3668dup
NM_000135.4:c.3625dup MANE Select	NP_000126.2:p.Asp1209GlyfsTer6
NM_001286167.3:c.3625dup	NP_001273096.1:p.Asp1209GlyfsTer6