Canonical Allele Identifier: CA915944125

Gene: WFS1

Linked Data

• ClinVar Variation Id: 802051
• ClinVar RCV Id: RCV000987410
• dbSNP Id: rs1578611240

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301624del , CM000666.2:g.6301624del	GRCh38
NC_000004.11:g.6303351del , CM000666.1:g.6303351del	GRCh37
NC_000004.10:g.6354252del	NCBI36
NG_011700.1:g.36775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1865del	ENSP00000507852.1:p.Leu622CysfsTer15
ENST00000683395.1:c.1806del
ENST00000684087.1:c.1829del	ENSP00000506978.1:p.Leu610CysfsTer15
ENST00000506362.2:c.1580del	ENSP00000424103.2:p.Leu527CysfsTer15
ENST00000673642.1:c.1488del	ENSP00000501242.1:n.1488del
ENST00000673991.1:c.1865del	ENSP00000501033.1:p.Leu622CysfsTer15
ENST00000226760.5:c.1829del MANE Select	ENSP00000226760.1:p.Leu610CysfsTer15
ENST00000503569.5:c.1829del	ENSP00000423337.1:p.Leu610CysfsTer15
ENST00000507765.1:n.2014del
NM_001145853.1:c.1829del	NP_001139325.1:p.Leu610CysfsTer15
NM_006005.3:c.1829del MANE Select	NP_005996.2:p.Leu610CysfsTer15
XM_017008586.1:c.1838del	XP_016864075.1:p.Leu613CysfsTer15