Canonical Allele Identifier: CA2586973631

Gene: WFS1

Linked Data

• gnomAD v4: 4-6301384-A-ACCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301385_6301388dup , CM000666.2:g.6301385_6301388dup	GRCh38
NC_000004.11:g.6303112_6303115dup , CM000666.1:g.6303112_6303115dup	GRCh37
NC_000004.10:g.6354013_6354016dup	NCBI36
NG_011700.1:g.36536_36539dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1626_1629dup	ENSP00000507852.1:p.Val544ProfsTer12
ENST00000683395.1:c.1567_1570dup
ENST00000684087.1:c.1590_1593dup	ENSP00000506978.1:p.Val532ProfsTer12
ENST00000506362.2:c.1341_1344dup	ENSP00000424103.2:p.Val449ProfsTer12
ENST00000673642.1:c.1249_1252dup	ENSP00000501242.1:p.Cys418SerfsTer?
ENST00000673991.1:c.1626_1629dup	ENSP00000501033.1:p.Val544ProfsTer12
ENST00000226760.5:c.1590_1593dup MANE Select	ENSP00000226760.1:p.Val532ProfsTer12
ENST00000503569.5:c.1590_1593dup	ENSP00000423337.1:p.Val532ProfsTer12
ENST00000507765.1:n.1775_1778dup
NM_001145853.1:c.1590_1593dup	NP_001139325.1:p.Val532ProfsTer12
NM_006005.3:c.1590_1593dup MANE Select	NP_005996.2:p.Val532ProfsTer12
XM_017008586.1:c.1599_1602dup	XP_016864075.1:p.Val535ProfsTer12