Canonical Allele Identifier: CA2697557066

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2742334
• ClinVar RCV Id: RCV003557931

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301898del , CM000666.2:g.6301898del	GRCh38
NC_000004.11:g.6303625del , CM000666.1:g.6303625del	GRCh37
NC_000004.10:g.6354526del	NCBI36
NG_011700.1:g.37049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2139del	ENSP00000507852.1:p.Gly714AlafsTer8
ENST00000683395.1:c.2080del
ENST00000684087.1:c.2103del	ENSP00000506978.1:p.Gly702AlafsTer8
ENST00000506362.2:c.1854del	ENSP00000424103.2:p.Gly619AlafsTer8
ENST00000673642.1:c.1762del	ENSP00000501242.1:n.1762del
ENST00000673991.1:c.2139del	ENSP00000501033.1:p.Gly714AlafsTer8
ENST00000226760.5:c.2103del MANE Select	ENSP00000226760.1:p.Gly702AlafsTer8
ENST00000503569.5:c.2103del	ENSP00000423337.1:p.Gly702AlafsTer8
ENST00000507765.1:n.2288del
NM_001145853.1:c.2103del	NP_001139325.1:p.Gly702AlafsTer8
NM_006005.3:c.2103del MANE Select	NP_005996.2:p.Gly702AlafsTer8
XM_017008586.1:c.2112del	XP_016864075.1:p.Gly705AlafsTer8