Canonical Allele Identifier: CA2760283953
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291490_6291491insACAA , CM000666.2:g.6291490_6291491insACAA GRCh38
NC_000004.11:g.6293217_6293218insACAA , CM000666.1:g.6293217_6293218insACAA GRCh37
NC_000004.10:g.6344118_6344119insACAA NCBI36
NG_011700.1:g.26641_26642insACAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.631+123_631+124insACAA ENSP00000507852.1:n.631+123_631+124insACAA
ENST00000683395.1:c.608+136_608+137insACAA
ENST00000684087.1:c.631+123_631+124insACAA ENSP00000506978.1:n.631+123_631+124insACAA
ENST00000684700.1:c.*49_*50insACAA ENSP00000507806.1:n.*49_*50insACAA
ENST00000506362.2:c.382+123_382+124insACAA ENSP00000424103.2:n.382+123_382+124insACAA
ENST00000673642.1:c.430+123_430+124insACAA ENSP00000501242.1:n.430+123_430+124insACAA
ENST00000673991.1:c.631+123_631+124insACAA ENSP00000501033.1:n.631+123_631+124insACAA
ENST00000226760.5:c.631+123_631+124insACAA MANE Select ENSP00000226760.1:n.631+123_631+124insACAA
ENST00000503569.5:c.631+123_631+124insACAA ENSP00000423337.1:n.631+123_631+124insACAA
ENST00000506362.1:c.228+123_228+124insACAA
ENST00000507765.1:n.816+123_816+124insACAA
NM_001145853.1:c.631+123_631+124insACAA NP_001139325.1:n.631+123_631+124insACAA
NM_006005.3:c.631+123_631+124insACAA MANE Select NP_005996.2:n.631+123_631+124insACAA
XM_017008586.1:c.640+123_640+124insACAA XP_016864075.1:n.640+123_640+124insACAA