Canonical Allele Identifier: CA3771463

Gene: FANCE

Linked Data

• dbSNP Id: rs777249237
• ExAC: 6:35423950 GGAA / G
• gnomAD v2: 6-35423950-GGAA-G
• gnomAD v3: 6-35456173-GGAA-G
• gnomAD v4: 6-35456173-GGAA-G
• MyVariant Identifiers: chr6:g.35423951_35423953del (hg19) ; chr6:g.35456175_35456177del (hg38) ; chr6:g.35456174_35456176del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35456179_35456181del , CM000668.2:g.35456179_35456181del	GRCh38
NC_000006.11:g.35423956_35423958del , CM000668.1:g.35423956_35423958del	GRCh37
NC_000006.10:g.35531934_35531936del	NCBI36
NG_011708.1:g.8819_8821del , LRG_498:g.8819_8821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.681_683del	ENSP00000512511.1:p.Glu227del
ENST00000696265.1:c.681_683del	ENSP00000512512.1:p.Glu227del
ENST00000696266.1:c.399_401del	ENSP00000512513.1:p.Glu133del
ENST00000696267.1:n.321_323del
ENST00000229769.3:c.681_683del MANE Select	ENSP00000229769.2:p.Glu227del
ENST00000648059.1:c.681_683del	ENSP00000497902.1:p.Glu227del
ENST00000229769.2:c.681_683del	ENSP00000229769.2:p.Glu227del
NM_021922.2:c.681_683del , LRG_498t1:c.681_683del	NP_068741.1:p.Glu227del
XM_005248885.2:c.681_683del	XP_005248942.1:p.Glu227del
XM_005248886.2:c.681_683del	XP_005248943.1:p.Glu227del
XM_005248887.2:c.681_683del	XP_005248944.1:p.Glu227del
XM_005248888.2:c.681_683del	XP_005248945.1:p.Glu227del
XM_011514343.1:c.387_389del	XP_011512645.1:p.Glu129del
XM_011514344.1:c.387_389del	XP_011512646.1:p.Glu129del
XM_005248888.3:c.681_683del	XP_005248945.1:p.Glu227del
XM_011514343.2:c.387_389del	XP_011512645.1:p.Glu129del
XR_001743226.1:n.888_890del
XR_002956267.1:n.888_890del
NM_021922.3:c.681_683del MANE Select	NP_068741.1:p.Glu227del