Canonical Allele Identifier: CA2643565145

Gene: CLCNKB

Linked Data

• gnomAD v4: 1-16055535-TGAGGGGCATGGGGATGGGGCGGGGGTGGGTCAGCAGGAATGGGAGGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055543_16055589del , CM000663.2:g.16055543_16055589del	GRCh38
NC_000001.10:g.16382038_16382084del , CM000663.1:g.16382038_16382084del	GRCh37
NC_000001.9:g.16254625_16254671del	NCBI36
NG_013079.1:g.16792_16838del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1845+20_1845+66del	ENSP00000507062.1:n.1845+20_1845+66del
ENST00000682793.1:c.1845+20_1845+66del	ENSP00000506910.1:n.1845+20_1845+66del
ENST00000682838.1:c.*1587+20_*1587+66del	ENSP00000507652.1:n.*1587+20_*1587+66del
ENST00000683578.1:c.1845+20_1845+66del	ENSP00000507430.1:n.1845+20_1845+66del
ENST00000683606.1:n.1451+20_1451+66del
ENST00000683661.1:n.3380+20_3380+66del
ENST00000684324.1:c.1845+20_1845+66del	ENSP00000507937.1:n.1845+20_1845+66del
ENST00000684545.1:c.1845+20_1845+66del	ENSP00000506733.1:n.1845+20_1845+66del
ENST00000684624.1:n.1222+20_1222+66del
ENST00000684714.1:c.*65+20_*65+66del	ENSP00000506861.1:n.*65+20_*65+66del
ENST00000684731.1:n.1172+20_1172+66del
ENST00000375679.9:c.1845+20_1845+66del MANE Select	ENSP00000364831.5:n.1845+20_1845+66del
ENST00000375667.7:c.1338+20_1338+66del	ENSP00000364819.3:n.1338+20_1338+66del
ENST00000375679.8:c.1845+20_1845+66del	ENSP00000364831.4:n.1845+20_1845+66del
ENST00000431772.1:c.312+20_312+66del	ENSP00000389344.1:n.312+20_312+66del
ENST00000619181.4:c.1294-1644_1294-1598del	ENSP00000483866.1:n.1294-1644_1294-1598del
NM_000085.4:c.1845+20_1845+66del	NP_000076.2:n.1845+20_1845+66del
NM_001165945.2:c.1338+20_1338+66del	NP_001159417.2:n.1338+20_1338+66del
XM_011540619.1:c.1686+20_1686+66del	XP_011538921.1:n.1686+20_1686+66del
XM_011540621.1:c.1194+20_1194+66del	XP_011538923.1:n.1194+20_1194+66del
NM_000085.5:c.1845+20_1845+66del MANE Select	NP_000076.2:n.1845+20_1845+66del