Canonical Allele Identifier: CA2643565529

Gene: CLCNKB

Linked Data

• gnomAD v4: 1-16055555-C-CGGGGGGAGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055560_16055561insGAGGGGGGGGGGG , CM000663.2:g.16055560_16055561insGAGGGGGGGGGGG	GRCh38
NC_000001.10:g.16382055_16382056insGAGGGGGGGGGGG , CM000663.1:g.16382055_16382056insGAGGGGGGGGGGG	GRCh37
NC_000001.9:g.16254642_16254643insGAGGGGGGGGGGG	NCBI36
NG_013079.1:g.16809_16810insGAGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1845+37_1845+38insGAGGGGGGGGGGG	ENSP00000507062.1:n.1845+37_1845+38insGAGGGGGGGGGGG
ENST00000682793.1:c.1845+37_1845+38insGAGGGGGGGGGGG	ENSP00000506910.1:n.1845+37_1845+38insGAGGGGGGGGGGG
ENST00000682838.1:c.*1587+37_*1587+38insGAGGGGGGGGGGG	ENSP00000507652.1:n.*1587+37_*1587+38insGAGGGGGGGGGGG
ENST00000683578.1:c.1845+37_1845+38insGAGGGGGGGGGGG	ENSP00000507430.1:n.1845+37_1845+38insGAGGGGGGGGGGG
ENST00000683606.1:n.1451+37_1451+38insGAGGGGGGGGGGG
ENST00000683661.1:n.3380+37_3380+38insGAGGGGGGGGGGG
ENST00000684324.1:c.1845+37_1845+38insGAGGGGGGGGGGG	ENSP00000507937.1:n.1845+37_1845+38insGAGGGGGGGGGGG
ENST00000684545.1:c.1845+37_1845+38insGAGGGGGGGGGGG	ENSP00000506733.1:n.1845+37_1845+38insGAGGGGGGGGGGG
ENST00000684624.1:n.1222+37_1222+38insGAGGGGGGGGGGG
ENST00000684714.1:c.*65+37_*65+38insGAGGGGGGGGGGG	ENSP00000506861.1:n.*65+37_*65+38insGAGGGGGGGGGGG
ENST00000684731.1:n.1172+37_1172+38insGAGGGGGGGGGGG
ENST00000375679.9:c.1845+37_1845+38insGAGGGGGGGGGGG MANE Select	ENSP00000364831.5:n.1845+37_1845+38insGAGGGGGGGGGGG
ENST00000375667.7:c.1338+37_1338+38insGAGGGGGGGGGGG	ENSP00000364819.3:n.1338+37_1338+38insGAGGGGGGGGGGG
ENST00000375679.8:c.1845+37_1845+38insGAGGGGGGGGGGG	ENSP00000364831.4:n.1845+37_1845+38insGAGGGGGGGGGGG
ENST00000431772.1:c.312+37_312+38insGAGGGGGGGGGGG	ENSP00000389344.1:n.312+37_312+38insGAGGGGGGGGGGG
ENST00000619181.4:c.1294-1627_1294-1626insGAGGGGGGGGGGG	ENSP00000483866.1:n.1294-1627_1294-1626insGAGGGGGGGGGGG
NM_000085.4:c.1845+37_1845+38insGAGGGGGGGGGGG	NP_000076.2:n.1845+37_1845+38insGAGGGGGGGGGGG
NM_001165945.2:c.1338+37_1338+38insGAGGGGGGGGGGG	NP_001159417.2:n.1338+37_1338+38insGAGGGGGGGGGGG
XM_011540619.1:c.1686+37_1686+38insGAGGGGGGGGGGG	XP_011538921.1:n.1686+37_1686+38insGAGGGGGGGGGGG
XM_011540621.1:c.1194+37_1194+38insGAGGGGGGGGGGG	XP_011538923.1:n.1194+37_1194+38insGAGGGGGGGGGGG
NM_000085.5:c.1845+37_1845+38insGAGGGGGGGGGGG MANE Select	NP_000076.2:n.1845+37_1845+38insGAGGGGGGGGGGG