Canonical Allele Identifier: CA2586973627

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301320_6301335dup , CM000666.2:g.6301320_6301335dup	GRCh38
NC_000004.11:g.6303047_6303062dup , CM000666.1:g.6303047_6303062dup	GRCh37
NC_000004.10:g.6353948_6353963dup	NCBI36
NG_011700.1:g.36471_36486dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1561_1576dup	ENSP00000507852.1:p.Leu526ArgfsTer34
ENST00000683395.1:c.1502_1517dup
ENST00000684087.1:c.1525_1540dup	ENSP00000506978.1:p.Leu514ArgfsTer34
ENST00000506362.2:c.1276_1291dup	ENSP00000424103.2:p.Leu431ArgfsTer34
ENST00000673642.1:c.1184_1199dup	ENSP00000501242.1:p.Leu401SerfsTer13
ENST00000673991.1:c.1561_1576dup	ENSP00000501033.1:p.Leu526ArgfsTer34
ENST00000226760.5:c.1525_1540dup MANE Select	ENSP00000226760.1:p.Leu514ArgfsTer34
ENST00000503569.5:c.1525_1540dup	ENSP00000423337.1:p.Leu514ArgfsTer34
ENST00000507765.1:n.1710_1725dup
NM_001145853.1:c.1525_1540dup	NP_001139325.1:p.Leu514ArgfsTer34
NM_006005.3:c.1525_1540dup MANE Select	NP_005996.2:p.Leu514ArgfsTer34
XM_017008586.1:c.1534_1549dup	XP_016864075.1:p.Leu517ArgfsTer34