Canonical Allele Identifier: CA2695199362

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2633953
• ClinVar RCV Id: RCV004529347

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291968_6291969delinsTG , CM000666.2:g.6291968_6291969delinsTG	GRCh38
NC_000004.11:g.6293695_6293696delinsTG , CM000666.1:g.6293695_6293696delinsTG	GRCh37
NC_000004.10:g.6344596_6344597delinsTG	NCBI36
NG_011700.1:g.27119_27120delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.683_684delinsTG	ENSP00000507852.1:p.Arg228Leu
ENST00000683395.1:c.660_661delinsTG
ENST00000684087.1:c.683_684delinsTG	ENSP00000506978.1:p.Arg228Leu
ENST00000506362.2:c.434_435delinsTG	ENSP00000424103.2:p.Arg145Leu
ENST00000673642.1:c.482_483delinsTG	ENSP00000501242.1:p.Arg161Leu
ENST00000673991.1:c.683_684delinsTG	ENSP00000501033.1:p.Arg228Leu
ENST00000226760.5:c.683_684delinsTG MANE Select	ENSP00000226760.1:p.Arg228Leu
ENST00000503569.5:c.683_684delinsTG	ENSP00000423337.1:p.Arg228Leu
ENST00000506362.1:c.280_281delinsTG
ENST00000507765.1:n.868_869delinsTG
NM_001145853.1:c.683_684delinsTG	NP_001139325.1:p.Arg228Leu
NM_006005.3:c.683_684delinsTG MANE Select	NP_005996.2:p.Arg228Leu
XM_017008586.1:c.692_693delinsTG	XP_016864075.1:p.Arg231Leu