Canonical Allele Identifier: CA2760284119
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291583_6291584insACA , CM000666.2:g.6291583_6291584insACA GRCh38
NC_000004.11:g.6293310_6293311insACA , CM000666.1:g.6293310_6293311insACA GRCh37
NC_000004.10:g.6344211_6344212insACA NCBI36
NG_011700.1:g.26734_26735insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.631+216_631+217insACA ENSP00000507852.1:n.631+216_631+217insACA
ENST00000683395.1:c.608+229_608+230insACA
ENST00000684087.1:c.631+216_631+217insACA ENSP00000506978.1:n.631+216_631+217insACA
ENST00000684700.1:c.*142_*143insACA ENSP00000507806.1:n.*142_*143insACA
ENST00000506362.2:c.382+216_382+217insACA ENSP00000424103.2:n.382+216_382+217insACA
ENST00000673642.1:c.430+216_430+217insACA ENSP00000501242.1:n.430+216_430+217insACA
ENST00000673991.1:c.631+216_631+217insACA ENSP00000501033.1:n.631+216_631+217insACA
ENST00000226760.5:c.631+216_631+217insACA MANE Select ENSP00000226760.1:n.631+216_631+217insACA
ENST00000503569.5:c.631+216_631+217insACA ENSP00000423337.1:n.631+216_631+217insACA
ENST00000506362.1:c.228+216_228+217insACA
ENST00000507765.1:n.816+216_816+217insACA
NM_001145853.1:c.631+216_631+217insACA NP_001139325.1:n.631+216_631+217insACA
NM_006005.3:c.631+216_631+217insACA MANE Select NP_005996.2:n.631+216_631+217insACA
XM_017008586.1:c.640+216_640+217insACA XP_016864075.1:n.640+216_640+217insACA