Canonical Allele Identifier: CA2760284022
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291529_6291530insACA , CM000666.2:g.6291529_6291530insACA GRCh38
NC_000004.11:g.6293256_6293257insACA , CM000666.1:g.6293256_6293257insACA GRCh37
NC_000004.10:g.6344157_6344158insACA NCBI36
NG_011700.1:g.26680_26681insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.631+162_631+163insACA ENSP00000507852.1:n.631+162_631+163insACA
ENST00000683395.1:c.608+175_608+176insACA
ENST00000684087.1:c.631+162_631+163insACA ENSP00000506978.1:n.631+162_631+163insACA
ENST00000684700.1:c.*88_*89insACA ENSP00000507806.1:n.*88_*89insACA
ENST00000506362.2:c.382+162_382+163insACA ENSP00000424103.2:n.382+162_382+163insACA
ENST00000673642.1:c.430+162_430+163insACA ENSP00000501242.1:n.430+162_430+163insACA
ENST00000673991.1:c.631+162_631+163insACA ENSP00000501033.1:n.631+162_631+163insACA
ENST00000226760.5:c.631+162_631+163insACA MANE Select ENSP00000226760.1:n.631+162_631+163insACA
ENST00000503569.5:c.631+162_631+163insACA ENSP00000423337.1:n.631+162_631+163insACA
ENST00000506362.1:c.228+162_228+163insACA
ENST00000507765.1:n.816+162_816+163insACA
NM_001145853.1:c.631+162_631+163insACA NP_001139325.1:n.631+162_631+163insACA
NM_006005.3:c.631+162_631+163insACA MANE Select NP_005996.2:n.631+162_631+163insACA
XM_017008586.1:c.640+162_640+163insACA XP_016864075.1:n.640+162_640+163insACA