Canonical Allele Identifier: CA1058892012

Gene: WFS1

Linked Data

• dbSNP Id: rs1730923876
• gnomAD v3: 4-6301628-CTGGTGGACCAAGGCCAGCTTCTCTG-C
• gnomAD v4: 4-6301628-CTGGTGGACCAAGGCCAGCTTCTCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301635_6301659del , CM000666.2:g.6301635_6301659del	GRCh38
NC_000004.11:g.6303362_6303386del , CM000666.1:g.6303362_6303386del	GRCh37
NC_000004.10:g.6354263_6354287del	NCBI36
NG_011700.1:g.36786_36810del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.1876_1900del	ENSP00000507852.1:p.Thr626GlyfsTer3
ENST00000683395.1:c.1817_1841del
ENST00000684087.1:c.1840_1864del	ENSP00000506978.1:p.Thr614GlyfsTer3
ENST00000506362.2:c.1591_1615del	ENSP00000424103.2:p.Thr531GlyfsTer3
ENST00000673642.1:c.1499_1523del	ENSP00000501242.1:n.1499_1523del
ENST00000673991.1:c.1876_1900del	ENSP00000501033.1:p.Thr626GlyfsTer3
ENST00000226760.5:c.1840_1864del MANE Select	ENSP00000226760.1:p.Thr614GlyfsTer3
ENST00000503569.5:c.1840_1864del	ENSP00000423337.1:p.Thr614GlyfsTer3
ENST00000507765.1:n.2025_2049del
NM_001145853.1:c.1840_1864del	NP_001139325.1:p.Thr614GlyfsTer3
NM_006005.3:c.1840_1864del MANE Select	NP_005996.2:p.Thr614GlyfsTer3
XM_017008586.1:c.1849_1873del	XP_016864075.1:p.Thr617GlyfsTer3