Canonical Allele Identifier: CA2643565410

Gene: CLCNKB

Linked Data

• gnomAD v4: 1-16055550-T-TGCTGGGGGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055551_16055552insCTGGGGGTGG , CM000663.2:g.16055551_16055552insCTGGGGGTGG	GRCh38
NC_000001.10:g.16382046_16382047insCTGGGGGTGG , CM000663.1:g.16382046_16382047insCTGGGGGTGG	GRCh37
NC_000001.9:g.16254633_16254634insCTGGGGGTGG	NCBI36
NG_013079.1:g.16800_16801insCTGGGGGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1845+28_1845+29insCTGGGGGTGG	ENSP00000507062.1:n.1845+28_1845+29insCTGGGGGTGG
ENST00000682793.1:c.1845+28_1845+29insCTGGGGGTGG	ENSP00000506910.1:n.1845+28_1845+29insCTGGGGGTGG
ENST00000682838.1:c.*1587+28_*1587+29insCTGGGGGTGG	ENSP00000507652.1:n.*1587+28_*1587+29insCTGGGGGTGG
ENST00000683578.1:c.1845+28_1845+29insCTGGGGGTGG	ENSP00000507430.1:n.1845+28_1845+29insCTGGGGGTGG
ENST00000683606.1:n.1451+28_1451+29insCTGGGGGTGG
ENST00000683661.1:n.3380+28_3380+29insCTGGGGGTGG
ENST00000684324.1:c.1845+28_1845+29insCTGGGGGTGG	ENSP00000507937.1:n.1845+28_1845+29insCTGGGGGTGG
ENST00000684545.1:c.1845+28_1845+29insCTGGGGGTGG	ENSP00000506733.1:n.1845+28_1845+29insCTGGGGGTGG
ENST00000684624.1:n.1222+28_1222+29insCTGGGGGTGG
ENST00000684714.1:c.*65+28_*65+29insCTGGGGGTGG	ENSP00000506861.1:n.*65+28_*65+29insCTGGGGGTGG
ENST00000684731.1:n.1172+28_1172+29insCTGGGGGTGG
ENST00000375679.9:c.1845+28_1845+29insCTGGGGGTGG MANE Select	ENSP00000364831.5:n.1845+28_1845+29insCTGGGGGTGG
ENST00000375667.7:c.1338+28_1338+29insCTGGGGGTGG	ENSP00000364819.3:n.1338+28_1338+29insCTGGGGGTGG
ENST00000375679.8:c.1845+28_1845+29insCTGGGGGTGG	ENSP00000364831.4:n.1845+28_1845+29insCTGGGGGTGG
ENST00000431772.1:c.312+28_312+29insCTGGGGGTGG	ENSP00000389344.1:n.312+28_312+29insCTGGGGGTGG
ENST00000619181.4:c.1294-1636_1294-1635insCTGGGGGTGG	ENSP00000483866.1:n.1294-1636_1294-1635insCTGGGGGTGG
NM_000085.4:c.1845+28_1845+29insCTGGGGGTGG	NP_000076.2:n.1845+28_1845+29insCTGGGGGTGG
NM_001165945.2:c.1338+28_1338+29insCTGGGGGTGG	NP_001159417.2:n.1338+28_1338+29insCTGGGGGTGG
XM_011540619.1:c.1686+28_1686+29insCTGGGGGTGG	XP_011538921.1:n.1686+28_1686+29insCTGGGGGTGG
XM_011540621.1:c.1194+28_1194+29insCTGGGGGTGG	XP_011538923.1:n.1194+28_1194+29insCTGGGGGTGG
NM_000085.5:c.1845+28_1845+29insCTGGGGGTGG MANE Select	NP_000076.2:n.1845+28_1845+29insCTGGGGGTGG