Canonical Allele Identifier: CA2578035838

Gene: WFS1

Linked Data

• gnomAD v4: 4-6301597-T-TGG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301598_6301599dup , CM000666.2:g.6301598_6301599dup	GRCh38
NC_000004.11:g.6303325_6303326dup , CM000666.1:g.6303325_6303326dup	GRCh37
NC_000004.10:g.6354226_6354227dup	NCBI36
NG_011700.1:g.36749_36750dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1839_1840dup	ENSP00000507852.1:p.Ala614GlyfsTer24
ENST00000683395.1:c.1780_1781dup
ENST00000684087.1:c.1803_1804dup	ENSP00000506978.1:p.Ala602GlyfsTer24
ENST00000506362.2:c.1554_1555dup	ENSP00000424103.2:p.Ala519GlyfsTer24
ENST00000673642.1:c.1462_1463dup	ENSP00000501242.1:n.1462_1463dup
ENST00000673991.1:c.1839_1840dup	ENSP00000501033.1:p.Ala614GlyfsTer24
ENST00000226760.5:c.1803_1804dup MANE Select	ENSP00000226760.1:p.Ala602GlyfsTer24
ENST00000503569.5:c.1803_1804dup	ENSP00000423337.1:p.Ala602GlyfsTer24
ENST00000507765.1:n.1988_1989dup
NM_001145853.1:c.1803_1804dup	NP_001139325.1:p.Ala602GlyfsTer24
NM_006005.3:c.1803_1804dup MANE Select	NP_005996.2:p.Ala602GlyfsTer24
XM_017008586.1:c.1812_1813dup	XP_016864075.1:p.Ala605GlyfsTer24