Canonical Allele Identifier: CA1435768747
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291544_6291558delinsCCTGTAGAGACCGTG , CM000666.2:g.6291544_6291558delinsCCTGTAGAGACCGTG GRCh38
NC_000004.11:g.6293271_6293285delinsCCTGTAGAGACCGTG , CM000666.1:g.6293271_6293285delinsCCTGTAGAGACCGTG GRCh37
NC_000004.10:g.6344172_6344186delinsCCTGTAGAGACCGTG NCBI36
NG_011700.1:g.26695_26709delinsCCTGTAGAGACCGTG

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.631+177_631+191delinsCCTGTAGAGACCGTG ENSP00000507852.1:n.631+177_631+191delins...
ENST00000683395.1:c.608+190_608+204delinsCCTGTAGAGACCGTG
ENST00000684087.1:c.631+177_631+191delinsCCTGTAGAGACCGTG ENSP00000506978.1:n.631+177_631+191delins...
ENST00000684700.1:c.*103_*117delinsCCTGTAGAGACCGTG ENSP00000507806.1:n.*103_*117delinsCCTGTA...
ENST00000506362.2:c.382+177_382+191delinsCCTGTAGAGACCGTG ENSP00000424103.2:n.382+177_382+191delins...
ENST00000673642.1:c.430+177_430+191delinsCCTGTAGAGACCGTG ENSP00000501242.1:n.430+177_430+191delins...
ENST00000673991.1:c.631+177_631+191delinsCCTGTAGAGACCGTG ENSP00000501033.1:n.631+177_631+191delins...
ENST00000226760.5:c.631+177_631+191delinsCCTGTAGAGACCGTG MANE Select ENSP00000226760.1:n.631+177_631+191delins...
ENST00000503569.5:c.631+177_631+191delinsCCTGTAGAGACCGTG ENSP00000423337.1:n.631+177_631+191delins...
ENST00000506362.1:c.228+177_228+191delinsCCTGTAGAGACCGTG
ENST00000507765.1:n.816+177_816+191delinsCCTGTAGAGACCGTG
NM_001145853.1:c.631+177_631+191delinsCCTGTAGAGACCGTG NP_001139325.1:n.631+177_631+191delinsCCT...
NM_006005.3:c.631+177_631+191delinsCCTGTAGAGACCGTG MANE Select NP_005996.2:n.631+177_631+191delinsCCTGTA...
XM_017008586.1:c.640+177_640+191delinsCCTGTAGAGACCGTG XP_016864075.1:n.640+177_640+191delinsCCT...