Canonical Allele Identifier: CA1435773133
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301293_6301296delinsAACG , CM000666.2:g.6301293_6301296delinsAACG GRCh38
NC_000004.11:g.6303020_6303023delinsAACG , CM000666.1:g.6303020_6303023delinsAACG GRCh37
NC_000004.10:g.6353921_6353924delinsAACG NCBI36
NG_011700.1:g.36444_36447delinsAACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1534_1537delinsAACG ENSP00000507852.1:p.Asn512=
ENST00000683395.1:c.1475_1478delinsAACG
ENST00000684087.1:c.1498_1501delinsAACG ENSP00000506978.1:p.Asn500=
ENST00000506362.2:c.1249_1252delinsAACG ENSP00000424103.2:p.Asn417=
ENST00000673642.1:c.1157_1160delinsAACG ENSP00000501242.1:p.Gln386=
ENST00000673991.1:c.1534_1537delinsAACG ENSP00000501033.1:p.Asn512=
ENST00000226760.5:c.1498_1501delinsAACG MANE Select ENSP00000226760.1:p.Asn500=
ENST00000503569.5:c.1498_1501delinsAACG ENSP00000423337.1:p.Asn500=
ENST00000507765.1:n.1683_1686delinsAACG
NM_001145853.1:c.1498_1501delinsAACG NP_001139325.1:p.Asn500=
NM_006005.3:c.1498_1501delinsAACG MANE Select NP_005996.2:p.Asn500=
XM_017008586.1:c.1507_1510delinsAACG XP_016864075.1:p.Asn503=