Canonical Allele Identifier: CA2760285139
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301491_6301493dup , CM000666.2:g.6301491_6301493dup GRCh38
NC_000004.11:g.6303218_6303220dup , CM000666.1:g.6303218_6303220dup GRCh37
NC_000004.10:g.6354119_6354121dup NCBI36
NG_011700.1:g.36642_36644dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1732_1734dup ENSP00000507852.1:p.Phe578_Leu579insPhe
ENST00000683395.1:c.1673_1675dup
ENST00000684087.1:c.1696_1698dup ENSP00000506978.1:p.Phe566_Leu567insPhe
ENST00000506362.2:c.1447_1449dup ENSP00000424103.2:p.Phe483_Leu484insPhe
ENST00000673642.1:c.1355_1357dup ENSP00000501242.1:n.1355_1357dup
ENST00000673991.1:c.1732_1734dup ENSP00000501033.1:p.Phe578_Leu579insPhe
ENST00000226760.5:c.1696_1698dup MANE Select ENSP00000226760.1:p.Phe566_Leu567insPhe
ENST00000503569.5:c.1696_1698dup ENSP00000423337.1:p.Phe566_Leu567insPhe
ENST00000507765.1:n.1881_1883dup
NM_001145853.1:c.1696_1698dup NP_001139325.1:p.Phe566_Leu567insPhe
NM_006005.3:c.1696_1698dup MANE Select NP_005996.2:p.Phe566_Leu567insPhe
XM_017008586.1:c.1705_1707dup XP_016864075.1:p.Phe569_Leu570insPhe