Canonical Allele Identifier: CA2635042790

Gene: FANCA

Linked Data

• gnomAD v4: 16-89811040-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89811041dup , CM000678.2:g.89811041dup	GRCh38
NC_000016.9:g.89877449dup , CM000678.1:g.89877449dup	GRCh37
NC_000016.8:g.88404950dup	NCBI36
NG_011706.1:g.10617dup , LRG_495:g.10617dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.314dup	ENSP00000512522.1:p.Val107GlyfsTer14
ENST00000563767.2:n.149dup
ENST00000564475.6:c.314dup	ENSP00000454977.2:p.Val107GlyfsTer14
ENST00000567205.2:c.314dup	ENSP00000457027.2:p.Val107GlyfsTer14
ENST00000567284.7:n.357dup
ENST00000567621.6:c.314dup	ENSP00000456762.2:p.Val107GlyfsTer14
ENST00000568369.6:c.314dup	ENSP00000456829.1:p.Val107GlyfsTer14
ENST00000696275.1:c.314dup	ENSP00000512517.1:p.Val107GlyfsTer14
ENST00000696276.1:n.357dup
ENST00000696277.1:c.314dup	ENSP00000512518.1:p.Val107GlyfsTer14
ENST00000696286.1:c.314dup	ENSP00000512523.1:p.Val107GlyfsTer14
ENST00000696287.1:c.314dup	ENSP00000512524.1:p.Val107GlyfsTer14
ENST00000696288.1:c.345dup	ENSP00000512525.1:n.345dup
ENST00000696291.1:c.314dup	ENSP00000512530.1:p.Val107GlyfsTer14
ENST00000696292.1:c.179dup	ENSP00000512531.1:n.179dup
ENST00000696293.1:c.171dup	ENSP00000512532.1:n.171dup
ENST00000696294.1:c.149dup	ENSP00000512533.1:p.Val52GlyfsTer14
ENST00000696295.1:c.149dup	ENSP00000512534.1:p.Val52GlyfsTer14
ENST00000696296.1:c.149dup	ENSP00000512535.1:p.Val52GlyfsTer14
ENST00000389301.8:c.314dup MANE Select	ENSP00000373952.3:p.Val107GlyfsTer14
ENST00000389301.7:c.314dup	ENSP00000373952.3:p.Val107GlyfsTer14
ENST00000389302.7:c.314dup	ENSP00000373953.3:p.Val107GlyfsTer14
ENST00000534992.5:c.314dup	ENSP00000443675.1:p.Val107GlyfsTer14
ENST00000543736.5:c.314dup	ENSP00000443409.1:p.Val107GlyfsTer14
ENST00000563513.1:c.300dup	ENSP00000455946.1:p.Gly101TrpfsTer?
ENST00000563673.5:c.314dup	ENSP00000456443.1:p.Val107GlyfsTer14
ENST00000565582.5:c.227dup	ENSP00000456722.1:p.Val78GlyfsTer14
ENST00000566889.5:n.896dup
ENST00000567883.5:n.307dup
ENST00000567943.1:c.*294dup	ENSP00000455941.1:n.*294dup
ENST00000568369.5:c.314dup	ENSP00000456829.1:p.Val107GlyfsTer14
NM_000135.2:c.314dup , LRG_495t1:c.314dup	NP_000126.2:p.Val107GlyfsTer14
NM_001018112.1:c.314dup	NP_001018122.1:p.Val107GlyfsTer14
NM_001286167.1:c.314dup	NP_001273096.1:p.Val107GlyfsTer14
XM_005256294.3:c.314dup	XP_005256351.1:p.Val107GlyfsTer14
XM_011522945.1:c.314dup	XP_011521247.1:p.Val107GlyfsTer14
XM_011522948.1:c.314dup	XP_011521250.1:p.Val107GlyfsTer14
XR_933244.1:n.357dup
XR_933245.1:n.357dup
XR_933246.1:n.357dup
XR_933247.1:n.357dup
NM_000135.3:c.314dup	NP_000126.2:p.Val107GlyfsTer14
NM_001018112.2:c.314dup	NP_001018122.1:p.Val107GlyfsTer14
NM_001286167.2:c.314dup	NP_001273096.1:p.Val107GlyfsTer14
NM_001351830.1:c.314dup	NP_001338759.1:p.Val107GlyfsTer14
XM_005256294.4:c.314dup	XP_005256351.1:p.Val107GlyfsTer14
XM_011522945.2:c.314dup	XP_011521247.1:p.Val107GlyfsTer14
XM_011522946.3:c.-839dup	XP_011521248.1:n.-839dup
XM_011522948.2:c.314dup	XP_011521250.1:p.Val107GlyfsTer14
XM_017023044.2:c.314dup	XP_016878533.1:p.Val107GlyfsTer14
XM_017023045.1:c.314dup	XP_016878534.1:p.Val107GlyfsTer14
XM_017023046.1:c.314dup	XP_016878535.1:p.Val107GlyfsTer14
XR_001751866.1:n.357dup
XR_001751867.1:n.357dup
XR_001751868.2:n.357dup
XR_002957793.1:n.357dup
XR_933244.2:n.357dup
XR_933245.2:n.357dup
XR_933247.2:n.357dup
NM_000135.4:c.314dup MANE Select	NP_000126.2:p.Val107GlyfsTer14
NM_001018112.3:c.314dup	NP_001018122.1:p.Val107GlyfsTer14
NM_001286167.3:c.314dup	NP_001273096.1:p.Val107GlyfsTer14
NM_001351830.2:c.314dup	NP_001338759.1:p.Val107GlyfsTer14