Canonical Allele Identifier: CA2578594026

Gene: FANCE

Linked Data

• ClinVar Variation Id: 2992250
• ClinVar RCV Id: RCV003855377
• gnomAD v4: 6-35456015-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35456016dup , CM000668.2:g.35456016dup	GRCh38
NC_000006.11:g.35423793dup , CM000668.1:g.35423793dup	GRCh37
NC_000006.10:g.35531771dup	NCBI36
NG_011708.1:g.8656dup , LRG_498:g.8656dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.518dup	ENSP00000512511.1:p.Arg176GlnfsTer12
ENST00000696265.1:c.518dup	ENSP00000512512.1:p.Arg176GlnfsTer12
ENST00000696266.1:c.236dup	ENSP00000512513.1:p.Arg82GlnfsTer12
ENST00000696267.1:n.158dup
ENST00000229769.3:c.518dup MANE Select	ENSP00000229769.2:p.Arg176GlnfsTer12
ENST00000648059.1:c.518dup	ENSP00000497902.1:p.Arg176GlnfsTer12
ENST00000229769.2:c.518dup	ENSP00000229769.2:p.Arg176GlnfsTer12
NM_021922.2:c.518dup , LRG_498t1:c.518dup	NP_068741.1:p.Arg176GlnfsTer12
XM_005248885.2:c.518dup	XP_005248942.1:p.Arg176GlnfsTer12
XM_005248886.2:c.518dup	XP_005248943.1:p.Arg176GlnfsTer12
XM_005248887.2:c.518dup	XP_005248944.1:p.Arg176GlnfsTer12
XM_005248888.2:c.518dup	XP_005248945.1:p.Arg176GlnfsTer12
XM_011514343.1:c.224dup	XP_011512645.1:p.Arg78GlnfsTer12
XM_011514344.1:c.224dup	XP_011512646.1:p.Arg78GlnfsTer12
XM_005248888.3:c.518dup	XP_005248945.1:p.Arg176GlnfsTer12
XM_011514343.2:c.224dup	XP_011512645.1:p.Arg78GlnfsTer12
XR_001743226.1:n.725dup
XR_002956267.1:n.725dup
NM_021922.3:c.518dup MANE Select	NP_068741.1:p.Arg176GlnfsTer12