Canonical Allele Identifier: CA980458735

Gene: FANCA

Linked Data

• dbSNP Id: rs2040354298
• gnomAD v3: 16-89799194-ACTC-A
• gnomAD v4: 16-89799194-ACTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89799200_89799202del , CM000678.2:g.89799200_89799202del	GRCh38
NC_000016.9:g.89865608_89865610del , CM000678.1:g.89865608_89865610del	GRCh37
NC_000016.8:g.88393109_88393111del	NCBI36
NG_011706.1:g.22461_22463del , LRG_495:g.22461_22463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.862_864del	ENSP00000512522.1:p.Glu288del
ENST00000563767.2:n.614_616del
ENST00000564475.6:c.862_864del	ENSP00000454977.2:p.Glu288del
ENST00000567205.2:c.862_864del	ENSP00000457027.2:p.Glu288del
ENST00000567284.7:n.905_907del
ENST00000567621.6:c.862_864del	ENSP00000456762.2:p.Glu288del
ENST00000568369.6:c.862_864del	ENSP00000456829.1:p.Glu288del
ENST00000696274.1:n.936_938del
ENST00000696275.1:c.862_864del	ENSP00000512517.1:p.Glu288del
ENST00000696276.1:n.905_907del
ENST00000696277.1:c.862_864del	ENSP00000512518.1:p.Glu288del
ENST00000696286.1:c.862_864del	ENSP00000512523.1:p.Glu288del
ENST00000696287.1:c.862_864del	ENSP00000512524.1:p.Glu288del
ENST00000696288.1:c.893_895del	ENSP00000512525.1:n.893_895del
ENST00000696291.1:c.*206_*208del	ENSP00000512530.1:n.*206_*208del
ENST00000696292.1:c.727_729del	ENSP00000512531.1:n.727_729del
ENST00000696293.1:c.719_721del	ENSP00000512532.1:n.719_721del
ENST00000696294.1:c.697_699del	ENSP00000512533.1:p.Glu233del
ENST00000696295.1:c.697_699del	ENSP00000512534.1:p.Glu233del
ENST00000389301.8:c.862_864del MANE Select	ENSP00000373952.3:p.Glu288del
ENST00000389301.7:c.862_864del	ENSP00000373952.3:p.Glu288del
ENST00000389302.7:c.862_864del	ENSP00000373953.3:p.Glu288del
ENST00000534992.5:c.862_864del	ENSP00000443675.1:p.Glu288del
ENST00000543736.5:c.766_768del	ENSP00000443409.1:p.Glu256del
ENST00000563673.5:c.862_864del	ENSP00000456443.1:p.Glu288del
ENST00000565582.5:c.692_694del	ENSP00000456722.1:n.692_694del
ENST00000566409.1:c.36_38del
ENST00000566889.5:n.1444_1446del
ENST00000567621.5:c.339_341del
ENST00000568369.5:c.862_864del	ENSP00000456829.1:p.Glu288del
NM_000135.2:c.862_864del , LRG_495t1:c.862_864del	NP_000126.2:p.Glu288del
NM_001018112.1:c.862_864del	NP_001018122.1:p.Glu288del
NM_001286167.1:c.862_864del	NP_001273096.1:p.Glu288del
XM_005256294.3:c.862_864del	XP_005256351.1:p.Glu288del
XM_011522945.1:c.862_864del	XP_011521247.1:p.Glu288del
XM_011522946.1:c.-291_-289del	XP_011521248.1:n.-291_-289del
XM_011522947.1:c.-49_-47del	XP_011521249.1:n.-49_-47del
XM_011522948.1:c.862_864del	XP_011521250.1:p.Glu288del
XR_933244.1:n.905_907del
XR_933245.1:n.905_907del
XR_933246.1:n.905_907del
XR_933247.1:n.905_907del
NM_000135.3:c.862_864del	NP_000126.2:p.Glu288del
NM_001018112.2:c.862_864del	NP_001018122.1:p.Glu288del
NM_001286167.2:c.862_864del	NP_001273096.1:p.Glu288del
NM_001351830.1:c.766_768del	NP_001338759.1:p.Glu256del
XM_005256294.4:c.862_864del	XP_005256351.1:p.Glu288del
XM_011522945.2:c.862_864del	XP_011521247.1:p.Glu288del
XM_011522946.3:c.-291_-289del	XP_011521248.1:n.-291_-289del
XM_011522947.2:c.-49_-47del	XP_011521249.1:n.-49_-47del
XM_011522948.2:c.862_864del	XP_011521250.1:p.Glu288del
XM_017023044.2:c.862_864del	XP_016878533.1:p.Glu288del
XM_017023045.1:c.862_864del	XP_016878534.1:p.Glu288del
XM_017023046.1:c.862_864del	XP_016878535.1:p.Glu288del
XM_024450189.1:c.-291_-289del	XP_024305957.1:n.-291_-289del
XR_001751866.1:n.905_907del
XR_001751867.1:n.905_907del
XR_001751868.2:n.905_907del
XR_002957793.1:n.905_907del
XR_933244.2:n.905_907del
XR_933245.2:n.905_907del
XR_933247.2:n.905_907del
NM_000135.4:c.862_864del MANE Select	NP_000126.2:p.Glu288del
NM_001018112.3:c.862_864del	NP_001018122.1:p.Glu288del
NM_001286167.3:c.862_864del	NP_001273096.1:p.Glu288del
NM_001351830.2:c.766_768del	NP_001338759.1:p.Glu256del