Canonical Allele Identifier: CA2643565010

Gene: CLCNKB

Linked Data

• gnomAD v4: 1-16055516-GACACCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055517_16055522del , CM000663.2:g.16055517_16055522del	GRCh38
NC_000001.10:g.16382012_16382017del , CM000663.1:g.16382012_16382017del	GRCh37
NC_000001.9:g.16254599_16254604del	NCBI36
NG_013079.1:g.16766_16771del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1839_1844del	ENSP00000507062.1:p.His614_Gln615del
ENST00000682793.1:c.1839_1844del	ENSP00000506910.1:p.His614_Gln615del
ENST00000682838.1:c.*1581_*1586del	ENSP00000507652.1:n.*1581_*1586del
ENST00000683578.1:c.1839_1844del	ENSP00000507430.1:p.His614_Gln615del
ENST00000683606.1:n.1445_1450del
ENST00000683661.1:n.3374_3379del
ENST00000684324.1:c.1839_1844del	ENSP00000507937.1:p.His614_Gln615del
ENST00000684545.1:c.1839_1844del	ENSP00000506733.1:p.His614_Gln615del
ENST00000684624.1:n.1216_1221del
ENST00000684714.1:c.*59_*64del	ENSP00000506861.1:n.*59_*64del
ENST00000684731.1:n.1166_1171del
ENST00000375679.9:c.1839_1844del MANE Select	ENSP00000364831.5:p.His614_Gln615del
ENST00000375667.7:c.1332_1337del	ENSP00000364819.3:p.His445_Gln446del
ENST00000375679.8:c.1839_1844del	ENSP00000364831.4:p.His614_Gln615del
ENST00000431772.1:c.306_311del	ENSP00000389344.1:p.His103_Gln104del
ENST00000619181.4:c.1294-1670_1294-1665del	ENSP00000483866.1:n.1294-1670_1294-1665del
NM_000085.4:c.1839_1844del	NP_000076.2:p.His614_Gln615del
NM_001165945.2:c.1332_1337del	NP_001159417.2:p.His445_Gln446del
XM_011540619.1:c.1680_1685del	XP_011538921.1:p.His561_Gln562del
XM_011540621.1:c.1188_1193del	XP_011538923.1:p.His397_Gln398del
NM_000085.5:c.1839_1844del MANE Select	NP_000076.2:p.His614_Gln615del