Canonical Allele Identifier: CA891862908

Gene: FANCE

Linked Data

• ClinVar Variation Id: 591068
• ClinVar RCV Id: RCV000722244 ; RCV003460997
• dbSNP Id: rs773363446
• gnomAD v4: 6-35456016-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35456022del , CM000668.2:g.35456022del	GRCh38
NC_000006.11:g.35423799del , CM000668.1:g.35423799del	GRCh37
NC_000006.10:g.35531777del	NCBI36
NG_011708.1:g.8662del , LRG_498:g.8662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.524del	ENSP00000512511.1:p.Gly175AlafsTer4
ENST00000696265.1:c.524del	ENSP00000512512.1:p.Gly175AlafsTer4
ENST00000696266.1:c.242del	ENSP00000512513.1:p.Gly81AlafsTer4
ENST00000696267.1:n.164del
ENST00000229769.3:c.524del MANE Select	ENSP00000229769.2:p.Gly175AlafsTer4
ENST00000648059.1:c.524del	ENSP00000497902.1:p.Gly175AlafsTer4
ENST00000229769.2:c.524del	ENSP00000229769.2:p.Gly175AlafsTer4
NM_021922.2:c.524del , LRG_498t1:c.524del	NP_068741.1:p.Gly175AlafsTer4
XM_005248885.2:c.524del	XP_005248942.1:p.Gly175AlafsTer4
XM_005248886.2:c.524del	XP_005248943.1:p.Gly175AlafsTer4
XM_005248887.2:c.524del	XP_005248944.1:p.Gly175AlafsTer4
XM_005248888.2:c.524del	XP_005248945.1:p.Gly175AlafsTer4
XM_011514343.1:c.230del	XP_011512645.1:p.Gly77AlafsTer4
XM_011514344.1:c.230del	XP_011512646.1:p.Gly77AlafsTer4
XM_005248888.3:c.524del	XP_005248945.1:p.Gly175AlafsTer4
XM_011514343.2:c.230del	XP_011512645.1:p.Gly77AlafsTer4
XR_001743226.1:n.731del
XR_002956267.1:n.731del
NM_021922.3:c.524del MANE Select	NP_068741.1:p.Gly175AlafsTer4