Canonical Allele Identifier: CA2643565524

Gene: CLCNKB

Linked Data

• gnomAD v4: 1-16055555-C-CGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055559_16055560dup , CM000663.2:g.16055559_16055560dup	GRCh38
NC_000001.10:g.16382054_16382055dup , CM000663.1:g.16382054_16382055dup	GRCh37
NC_000001.9:g.16254641_16254642dup	NCBI36
NG_013079.1:g.16808_16809dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1845+36_1845+37dup	ENSP00000507062.1:n.1845+36_1845+37dup
ENST00000682793.1:c.1845+36_1845+37dup	ENSP00000506910.1:n.1845+36_1845+37dup
ENST00000682838.1:c.*1587+36_*1587+37dup	ENSP00000507652.1:n.*1587+36_*1587+37dup
ENST00000683578.1:c.1845+36_1845+37dup	ENSP00000507430.1:n.1845+36_1845+37dup
ENST00000683606.1:n.1451+36_1451+37dup
ENST00000683661.1:n.3380+36_3380+37dup
ENST00000684324.1:c.1845+36_1845+37dup	ENSP00000507937.1:n.1845+36_1845+37dup
ENST00000684545.1:c.1845+36_1845+37dup	ENSP00000506733.1:n.1845+36_1845+37dup
ENST00000684624.1:n.1222+36_1222+37dup
ENST00000684714.1:c.*65+36_*65+37dup	ENSP00000506861.1:n.*65+36_*65+37dup
ENST00000684731.1:n.1172+36_1172+37dup
ENST00000375679.9:c.1845+36_1845+37dup MANE Select	ENSP00000364831.5:n.1845+36_1845+37dup
ENST00000375667.7:c.1338+36_1338+37dup	ENSP00000364819.3:n.1338+36_1338+37dup
ENST00000375679.8:c.1845+36_1845+37dup	ENSP00000364831.4:n.1845+36_1845+37dup
ENST00000431772.1:c.312+36_312+37dup	ENSP00000389344.1:n.312+36_312+37dup
ENST00000619181.4:c.1294-1628_1294-1627dup	ENSP00000483866.1:n.1294-1628_1294-1627dup
NM_000085.4:c.1845+36_1845+37dup	NP_000076.2:n.1845+36_1845+37dup
NM_001165945.2:c.1338+36_1338+37dup	NP_001159417.2:n.1338+36_1338+37dup
XM_011540619.1:c.1686+36_1686+37dup	XP_011538921.1:n.1686+36_1686+37dup
XM_011540621.1:c.1194+36_1194+37dup	XP_011538923.1:n.1194+36_1194+37dup
NM_000085.5:c.1845+36_1845+37dup MANE Select	NP_000076.2:n.1845+36_1845+37dup