Canonical Allele Identifier: CA2760271234

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301872_6301875dup , CM000666.2:g.6301872_6301875dup	GRCh38
NC_000004.11:g.6303599_6303602dup , CM000666.1:g.6303599_6303602dup	GRCh37
NC_000004.10:g.6354500_6354503dup	NCBI36
NG_011700.1:g.37023_37026dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2113_2116dup	ENSP00000507852.1:p.Glu706AlafsTer19
ENST00000683395.1:c.2054_2057dup
ENST00000684087.1:c.2077_2080dup	ENSP00000506978.1:p.Glu694AlafsTer19
ENST00000506362.2:c.1828_1831dup	ENSP00000424103.2:p.Glu611AlafsTer19
ENST00000673642.1:c.1736_1739dup	ENSP00000501242.1:n.1736_1739dup
ENST00000673991.1:c.2113_2116dup	ENSP00000501033.1:p.Glu706AlafsTer19
ENST00000226760.5:c.2077_2080dup MANE Select	ENSP00000226760.1:p.Glu694AlafsTer19
ENST00000503569.5:c.2077_2080dup	ENSP00000423337.1:p.Glu694AlafsTer19
ENST00000507765.1:n.2262_2265dup
NM_001145853.1:c.2077_2080dup	NP_001139325.1:p.Glu694AlafsTer19
NM_006005.3:c.2077_2080dup MANE Select	NP_005996.2:p.Glu694AlafsTer19
XM_017008586.1:c.2086_2089dup	XP_016864075.1:p.Glu697AlafsTer19