Canonical Allele Identifier: CA18339425
Gene: CLCNKB HGNC NCBI

Linked Data

dbSNP Id: rs111663047

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16053758dup , CM000663.2:g.16053758dup GRCh38
NC_000001.10:g.16380253dup , CM000663.1:g.16380253dup GRCh37
NC_000001.9:g.16252840dup NCBI36
NG_013079.1:g.15007dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.1742dup ENSP00000507062.1:p.Val582GlyfsTer25
ENST00000682793.1:c.1742dup ENSP00000506910.1:p.Val582GlyfsTer25
ENST00000682838.1:c.*1484dup ENSP00000507652.1:n.*1484dup
ENST00000683578.1:c.1742dup ENSP00000507430.1:p.Val582GlyfsTer25
ENST00000683606.1:n.1348dup
ENST00000683661.1:n.3277dup
ENST00000684324.1:c.1742dup ENSP00000507937.1:p.Val582GlyfsTer25
ENST00000684545.1:c.1742dup ENSP00000506733.1:p.Val582GlyfsTer25
ENST00000684624.1:n.1119dup
ENST00000684714.1:c.1707+35dup ENSP00000506861.1:n.1707+35dup
ENST00000684731.1:n.1083+1347dup
ENST00000375679.9:c.1742dup MANE Select ENSP00000364831.5:p.Val582GlyfsTer25
ENST00000375667.7:c.1235dup ENSP00000364819.3:p.Val413GlyfsTer25
ENST00000375679.8:c.1742dup ENSP00000364831.4:p.Val582GlyfsTer25
ENST00000431772.1:c.209dup ENSP00000389344.1:p.Val71GlyfsTer25
ENST00000619181.4:c.1293+68dup ENSP00000483866.1:n.1293+68dup
NM_000085.4:c.1742dup NP_000076.2:p.Val582GlyfsTer25
NM_001165945.2:c.1235dup NP_001159417.2:p.Val413GlyfsTer25
XM_011540619.1:c.1583dup XP_011538921.1:p.Val529GlyfsTer25
XM_011540621.1:c.1091dup XP_011538923.1:p.Val365GlyfsTer25
NM_000085.5:c.1742dup MANE Select NP_000076.2:p.Val582GlyfsTer25