Canonical Allele Identifier: CA2669826068
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291496_6291545del , CM000666.2:g.6291496_6291545del GRCh38
NC_000004.11:g.6293223_6293272del , CM000666.1:g.6293223_6293272del GRCh37
NC_000004.10:g.6344124_6344173del NCBI36
NG_011700.1:g.26647_26696del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.631+129_631+178del ENSP00000507852.1:n.631+129_631+178del
ENST00000683395.1:c.608+142_608+191del
ENST00000684087.1:c.631+129_631+178del ENSP00000506978.1:n.631+129_631+178del
ENST00000684700.1:c.*55_*104del ENSP00000507806.1:n.*55_*104del
ENST00000506362.2:c.382+129_382+178del ENSP00000424103.2:n.382+129_382+178del
ENST00000673642.1:c.430+129_430+178del ENSP00000501242.1:n.430+129_430+178del
ENST00000673991.1:c.631+129_631+178del ENSP00000501033.1:n.631+129_631+178del
ENST00000226760.5:c.631+129_631+178del MANE Select ENSP00000226760.1:n.631+129_631+178del
ENST00000503569.5:c.631+129_631+178del ENSP00000423337.1:n.631+129_631+178del
ENST00000506362.1:c.228+129_228+178del
ENST00000507765.1:n.816+129_816+178del
NM_001145853.1:c.631+129_631+178del NP_001139325.1:n.631+129_631+178del
NM_006005.3:c.631+129_631+178del MANE Select NP_005996.2:n.631+129_631+178del
XM_017008586.1:c.640+129_640+178del XP_016864075.1:n.640+129_640+178del