Canonical Allele Identifier: CA549707909

Gene: WFS1

Linked Data

• dbSNP Id: rs1560420268
• gnomAD v2: 4-6303351-TGCGCTGGTGGACCAAG-T
• MyVariant Identifiers: chr4:g.6303352_6303367del (hg19) ; chr4:g.6301625_6301640del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301627_6301642del , CM000666.2:g.6301627_6301642del	GRCh38
NC_000004.11:g.6303354_6303369del , CM000666.1:g.6303354_6303369del	GRCh37
NC_000004.10:g.6354255_6354270del	NCBI36
NG_011700.1:g.36778_36793del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.1868_1883del	ENSP00000507852.1:p.Arg623ProfsTer9
ENST00000683395.1:c.1809_1824del
ENST00000684087.1:c.1832_1847del	ENSP00000506978.1:p.Arg611ProfsTer9
ENST00000506362.2:c.1583_1598del	ENSP00000424103.2:p.Arg528ProfsTer9
ENST00000673642.1:c.1491_1506del	ENSP00000501242.1:n.1491_1506del
ENST00000673991.1:c.1868_1883del	ENSP00000501033.1:p.Arg623ProfsTer9
ENST00000226760.5:c.1832_1847del MANE Select	ENSP00000226760.1:p.Arg611ProfsTer9
ENST00000503569.5:c.1832_1847del	ENSP00000423337.1:p.Arg611ProfsTer9
ENST00000507765.1:n.2017_2032del
NM_001145853.1:c.1832_1847del	NP_001139325.1:p.Arg611ProfsTer9
NM_006005.3:c.1832_1847del MANE Select	NP_005996.2:p.Arg611ProfsTer9
XM_017008586.1:c.1841_1856del	XP_016864075.1:p.Arg614ProfsTer9