Canonical Allele Identifier: CA566703041

Gene: FANCE

Linked Data

• ClinVar Variation Id: 1322887
• ClinVar RCV Id: RCV001783262
• dbSNP Id: rs1479445348
• gnomAD v2: 6-35423606-GA-G
• gnomAD v4: 6-35455829-GA-G
• MyVariant Identifiers: chr6:g.35423607del (hg19) ; chr6:g.35455830del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35455832del , CM000668.2:g.35455832del	GRCh38
NC_000006.11:g.35423609del , CM000668.1:g.35423609del	GRCh37
NC_000006.10:g.35531587del	NCBI36
NG_011708.1:g.8472del , LRG_498:g.8472del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.334del	ENSP00000512511.1:p.Ser112ValfsTer14
ENST00000696265.1:c.334del	ENSP00000512512.1:p.Ser112ValfsTer14
ENST00000696266.1:c.52del	ENSP00000512513.1:p.Ser18ValfsTer14
ENST00000229769.3:c.334del MANE Select	ENSP00000229769.2:p.Ser112ValfsTer14
ENST00000648059.1:c.334del	ENSP00000497902.1:p.Ser112ValfsTer14
ENST00000229769.2:c.334del	ENSP00000229769.2:p.Ser112ValfsTer14
NM_021922.2:c.334del , LRG_498t1:c.334del	NP_068741.1:p.Ser112ValfsTer14
XM_005248885.2:c.334del	XP_005248942.1:p.Ser112ValfsTer14
XM_005248886.2:c.334del	XP_005248943.1:p.Ser112ValfsTer14
XM_005248887.2:c.334del	XP_005248944.1:p.Ser112ValfsTer14
XM_005248888.2:c.334del	XP_005248945.1:p.Ser112ValfsTer14
XM_011514343.1:c.40del	XP_011512645.1:p.Ser14ValfsTer14
XM_011514344.1:c.40del	XP_011512646.1:p.Ser14ValfsTer14
XM_005248888.3:c.334del	XP_005248945.1:p.Ser112ValfsTer14
XM_011514343.2:c.40del	XP_011512645.1:p.Ser14ValfsTer14
XR_001743226.1:n.541del
XR_002956267.1:n.541del
NM_021922.3:c.334del MANE Select	NP_068741.1:p.Ser112ValfsTer14