Canonical Allele Identifier: CA1435772586
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1730872717

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301032_6301040del , CM000666.2:g.6301032_6301040del GRCh38
NC_000004.11:g.6302759_6302767del , CM000666.1:g.6302759_6302767del GRCh37
NC_000004.10:g.6353660_6353668del NCBI36
NG_011700.1:g.36183_36191del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1273_1281del ENSP00000507852.1:p.Phe425_Val427del
ENST00000683395.1:c.1214_1222del
ENST00000684087.1:c.1237_1245del ENSP00000506978.1:p.Phe413_Val415del
ENST00000506362.2:c.988_996del ENSP00000424103.2:p.Phe330_Val332del
ENST00000673642.1:c.896_904del ENSP00000501242.1:p.Leu299_Arg301del
ENST00000673991.1:c.1273_1281del ENSP00000501033.1:p.Phe425_Val427del
ENST00000226760.5:c.1237_1245del MANE Select ENSP00000226760.1:p.Phe413_Val415del
ENST00000503569.5:c.1237_1245del ENSP00000423337.1:p.Phe413_Val415del
ENST00000507765.1:n.1422_1430del
NM_001145853.1:c.1237_1245del NP_001139325.1:p.Phe413_Val415del
NM_006005.3:c.1237_1245del MANE Select NP_005996.2:p.Phe413_Val415del
XM_017008586.1:c.1246_1254del XP_016864075.1:p.Phe416_Val418del