Canonical Allele Identifier: CA2760284044
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291542_6291548del , CM000666.2:g.6291542_6291548del GRCh38
NC_000004.11:g.6293269_6293275del , CM000666.1:g.6293269_6293275del GRCh37
NC_000004.10:g.6344170_6344176del NCBI36
NG_011700.1:g.26693_26699del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.631+175_631+181del ENSP00000507852.1:n.631+175_631+181del
ENST00000683395.1:c.608+188_608+194del
ENST00000684087.1:c.631+175_631+181del ENSP00000506978.1:n.631+175_631+181del
ENST00000684700.1:c.*101_*107del ENSP00000507806.1:n.*101_*107del
ENST00000506362.2:c.382+175_382+181del ENSP00000424103.2:n.382+175_382+181del
ENST00000673642.1:c.430+175_430+181del ENSP00000501242.1:n.430+175_430+181del
ENST00000673991.1:c.631+175_631+181del ENSP00000501033.1:n.631+175_631+181del
ENST00000226760.5:c.631+175_631+181del MANE Select ENSP00000226760.1:n.631+175_631+181del
ENST00000503569.5:c.631+175_631+181del ENSP00000423337.1:n.631+175_631+181del
ENST00000506362.1:c.228+175_228+181del
ENST00000507765.1:n.816+175_816+181del
NM_001145853.1:c.631+175_631+181del NP_001139325.1:n.631+175_631+181del
NM_006005.3:c.631+175_631+181del MANE Select NP_005996.2:n.631+175_631+181del
XM_017008586.1:c.640+175_640+181del XP_016864075.1:n.640+175_640+181del