Canonical Allele Identifier: CA1435768755
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291558_6291559delinsGC , CM000666.2:g.6291558_6291559delinsGC GRCh38
NC_000004.11:g.6293285_6293286delinsGC , CM000666.1:g.6293285_6293286delinsGC GRCh37
NC_000004.10:g.6344186_6344187delinsGC NCBI36
NG_011700.1:g.26709_26710delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.631+191_631+192delinsGC ENSP00000507852.1:n.631+191_631+192delins...
ENST00000683395.1:c.608+204_608+205delinsGC
ENST00000684087.1:c.631+191_631+192delinsGC ENSP00000506978.1:n.631+191_631+192delins...
ENST00000684700.1:c.*117_*118delinsGC ENSP00000507806.1:n.*117_*118delinsGC
ENST00000506362.2:c.382+191_382+192delinsGC ENSP00000424103.2:n.382+191_382+192delins...
ENST00000673642.1:c.430+191_430+192delinsGC ENSP00000501242.1:n.430+191_430+192delins...
ENST00000673991.1:c.631+191_631+192delinsGC ENSP00000501033.1:n.631+191_631+192delins...
ENST00000226760.5:c.631+191_631+192delinsGC MANE Select ENSP00000226760.1:n.631+191_631+192delins...
ENST00000503569.5:c.631+191_631+192delinsGC ENSP00000423337.1:n.631+191_631+192delins...
ENST00000506362.1:c.228+191_228+192delinsGC
ENST00000507765.1:n.816+191_816+192delinsGC
NM_001145853.1:c.631+191_631+192delinsGC NP_001139325.1:n.631+191_631+192delinsGC
NM_006005.3:c.631+191_631+192delinsGC MANE Select NP_005996.2:n.631+191_631+192delinsGC
XM_017008586.1:c.640+191_640+192delinsGC XP_016864075.1:n.640+191_640+192delinsGC