Canonical Allele Identifier: CA2643564967

Gene: CLCNKB

Linked Data

• gnomAD v4: 1-16055509-GCTCCTGGACACCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055510_16055522del , CM000663.2:g.16055510_16055522del	GRCh38
NC_000001.10:g.16382005_16382017del , CM000663.1:g.16382005_16382017del	GRCh37
NC_000001.9:g.16254592_16254604del	NCBI36
NG_013079.1:g.16759_16771del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1832_1844del	ENSP00000507062.1:p.Ala611GlyfsTer17
ENST00000682793.1:c.1832_1844del	ENSP00000506910.1:p.Ala611GlyfsTer17
ENST00000682838.1:c.*1574_*1586del	ENSP00000507652.1:n.*1574_*1586del
ENST00000683578.1:c.1832_1844del	ENSP00000507430.1:p.Ala611GlyfsTer16
ENST00000683606.1:n.1438_1450del
ENST00000683661.1:n.3367_3379del
ENST00000684324.1:c.1832_1844del	ENSP00000507937.1:p.Ala611GlyfsTer17
ENST00000684545.1:c.1832_1844del	ENSP00000506733.1:p.Ala611GlyfsTer17
ENST00000684624.1:n.1209_1221del
ENST00000684714.1:c.*52_*64del	ENSP00000506861.1:n.*52_*64del
ENST00000684731.1:n.1159_1171del
ENST00000375679.9:c.1832_1844del MANE Select	ENSP00000364831.5:p.Ala611GlyfsTer17
ENST00000375667.7:c.1325_1337del	ENSP00000364819.3:p.Ala442GlyfsTer16
ENST00000375679.8:c.1832_1844del	ENSP00000364831.4:p.Ala611GlyfsTer17
ENST00000431772.1:c.299_311del	ENSP00000389344.1:p.Ala100GlyfsTer16
ENST00000619181.4:c.1294-1677_1294-1665del	ENSP00000483866.1:n.1294-1677_1294-1665del
NM_000085.4:c.1832_1844del	NP_000076.2:p.Ala611GlyfsTer17
NM_001165945.2:c.1325_1337del	NP_001159417.2:p.Ala442GlyfsTer16
XM_011540619.1:c.1673_1685del	XP_011538921.1:p.Ala558GlyfsTer17
XM_011540621.1:c.1181_1193del	XP_011538923.1:p.Ala394GlyfsTer17
NM_000085.5:c.1832_1844del MANE Select	NP_000076.2:p.Ala611GlyfsTer17