Canonical Allele Identifier: CA2643565664

Gene: CLCNKB

Linked Data

• gnomAD v4: 1-16055586-GGGCCCGCTGATATCCTGAGGGAGAGGTGGTCAGAGAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055590_16055627del , CM000663.2:g.16055590_16055627del	GRCh38
NC_000001.10:g.16382085_16382122del , CM000663.1:g.16382085_16382122del	GRCh37
NC_000001.9:g.16254672_16254709del	NCBI36
NG_013079.1:g.16839_16876del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1845+67_1846-48del	ENSP00000507062.1:n.1845+67_1846-48del
ENST00000682793.1:c.1845+67_1846-48del	ENSP00000506910.1:n.1845+67_1846-48del
ENST00000682838.1:c.*1587+67_*1588-51del	ENSP00000507652.1:n.*1587+67_*1588-51del
ENST00000683578.1:c.1845+67_1846-51del	ENSP00000507430.1:n.1845+67_1846-51del
ENST00000683606.1:n.1451+67_1452-51del
ENST00000683661.1:n.3380+67_3381-48del
ENST00000684324.1:c.1845+67_1846-48del	ENSP00000507937.1:n.1845+67_1846-48del
ENST00000684545.1:c.1845+67_1846-48del	ENSP00000506733.1:n.1845+67_1846-48del
ENST00000684624.1:n.1222+67_1223-48del
ENST00000684714.1:c.*65+67_*66-48del	ENSP00000506861.1:n.*65+67_*66-48del
ENST00000684731.1:n.1172+67_1173-48del
ENST00000375679.9:c.1845+67_1846-48del MANE Select	ENSP00000364831.5:n.1845+67_1846-48del
ENST00000375667.7:c.1338+67_1339-51del	ENSP00000364819.3:n.1338+67_1339-51del
ENST00000375679.8:c.1845+67_1846-48del	ENSP00000364831.4:n.1845+67_1846-48del
ENST00000431772.1:c.312+67_313-51del	ENSP00000389344.1:n.312+67_313-51del
ENST00000619181.4:c.1294-1597_1294-1560del	ENSP00000483866.1:n.1294-1597_1294-1560del
NM_000085.4:c.1845+67_1846-48del	NP_000076.2:n.1845+67_1846-48del
NM_001165945.2:c.1338+67_1339-51del	NP_001159417.2:n.1338+67_1339-51del
XM_011540619.1:c.1686+67_1687-48del	XP_011538921.1:n.1686+67_1687-48del
XM_011540621.1:c.1194+67_1195-48del	XP_011538923.1:n.1194+67_1195-48del
NM_000085.5:c.1845+67_1846-48del MANE Select	NP_000076.2:n.1845+67_1846-48del