Canonical Allele Identifier: CA1435773219

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301316_6301318delinsCTA , CM000666.2:g.6301316_6301318delinsCTA	GRCh38
NC_000004.11:g.6303043_6303045delinsCTA , CM000666.1:g.6303043_6303045delinsCTA	GRCh37
NC_000004.10:g.6353944_6353946delinsCTA	NCBI36
NG_011700.1:g.36467_36469delinsCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1557_1559delinsCTA	ENSP00000507852.1:p.Leu519=
ENST00000683395.1:c.1498_1500delinsCTA
ENST00000684087.1:c.1521_1523delinsCTA	ENSP00000506978.1:p.Leu507=
ENST00000506362.2:c.1272_1274delinsCTA	ENSP00000424103.2:p.Leu424=
ENST00000673642.1:c.1180_1182delinsCTA	ENSP00000501242.1:p.Leu394=
ENST00000673991.1:c.1557_1559delinsCTA	ENSP00000501033.1:p.Leu519=
ENST00000226760.5:c.1521_1523delinsCTA MANE Select	ENSP00000226760.1:p.Leu507=
ENST00000503569.5:c.1521_1523delinsCTA	ENSP00000423337.1:p.Leu507=
ENST00000507765.1:n.1706_1708delinsCTA
NM_001145853.1:c.1521_1523delinsCTA	NP_001139325.1:p.Leu507=
NM_006005.3:c.1521_1523delinsCTA MANE Select	NP_005996.2:p.Leu507=
XM_017008586.1:c.1530_1532delinsCTA	XP_016864075.1:p.Leu510=