Canonical Allele Identifier: CA2586973645

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301945dup , CM000666.2:g.6301945dup	GRCh38
NC_000004.11:g.6303672dup , CM000666.1:g.6303672dup	GRCh37
NC_000004.10:g.6354573dup	NCBI36
NG_011700.1:g.37096dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2186dup	ENSP00000507852.1:p.Ser730ValfsTer?
ENST00000683395.1:c.2127dup
ENST00000684087.1:c.2150dup	ENSP00000506978.1:p.Ser718ValfsTer?
ENST00000506362.2:c.1901dup	ENSP00000424103.2:p.Ser635ValfsTer?
ENST00000673642.1:c.1809dup	ENSP00000501242.1:n.1809dup
ENST00000673991.1:c.2186dup	ENSP00000501033.1:p.Ser730ValfsTer?
ENST00000226760.5:c.2150dup MANE Select	ENSP00000226760.1:p.Ser718ValfsTer?
ENST00000503569.5:c.2150dup	ENSP00000423337.1:p.Ser718ValfsTer?
ENST00000507765.1:n.2335dup
NM_001145853.1:c.2150dup	NP_001139325.1:p.Ser718ValfsTer?
NM_006005.3:c.2150dup MANE Select	NP_005996.2:p.Ser718ValfsTer?
XM_017008586.1:c.2159dup	XP_016864075.1:p.Ser721ValfsTer?