Canonical Allele Identifier: CA2586973647
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301969_6301973dup , CM000666.2:g.6301969_6301973dup GRCh38
NC_000004.11:g.6303696_6303700dup , CM000666.1:g.6303696_6303700dup GRCh37
NC_000004.10:g.6354597_6354601dup NCBI36
NG_011700.1:g.37120_37124dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2210_2214dup ENSP00000507852.1:p.Ile739SerfsTer?
ENST00000683395.1:c.2151_2155dup
ENST00000684087.1:c.2174_2178dup ENSP00000506978.1:p.Ile727SerfsTer?
ENST00000506362.2:c.1925_1929dup ENSP00000424103.2:p.Ile644SerfsTer?
ENST00000673642.1:c.1833_1837dup ENSP00000501242.1:n.1833_1837dup
ENST00000673991.1:c.2210_2214dup ENSP00000501033.1:p.Ile739SerfsTer?
ENST00000226760.5:c.2174_2178dup MANE Select ENSP00000226760.1:p.Ile727SerfsTer?
ENST00000503569.5:c.2174_2178dup ENSP00000423337.1:p.Ile727SerfsTer?
ENST00000507765.1:n.2359_2363dup
NM_001145853.1:c.2174_2178dup NP_001139325.1:p.Ile727SerfsTer?
NM_006005.3:c.2174_2178dup MANE Select NP_005996.2:p.Ile727SerfsTer?
XM_017008586.1:c.2183_2187dup XP_016864075.1:p.Ile730SerfsTer?