Canonical Allele Identifier: CA2593386519

Gene: CLCNKB

Linked Data

• gnomAD v3: 1-16055550-T-TGGGGTTGGGGGTG
• gnomAD v4: 1-16055550-T-TGGGGTTGGGGGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055554_16055555insTTGGGGGTGGGGG , CM000663.2:g.16055554_16055555insTTGGGGGTGGGGG	GRCh38
NC_000001.10:g.16382049_16382050insTTGGGGGTGGGGG , CM000663.1:g.16382049_16382050insTTGGGGGTGGGGG	GRCh37
NC_000001.9:g.16254636_16254637insTTGGGGGTGGGGG	NCBI36
NG_013079.1:g.16803_16804insTTGGGGGTGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1845+31_1845+32insTTGGGGGTGGGGG	ENSP00000507062.1:n.1845+31_1845+32insTTGGGGGTGGGGG
ENST00000682793.1:c.1845+31_1845+32insTTGGGGGTGGGGG	ENSP00000506910.1:n.1845+31_1845+32insTTGGGGGTGGGGG
ENST00000682838.1:c.*1587+31_*1587+32insTTGGGGGTGGGGG	ENSP00000507652.1:n.*1587+31_*1587+32insTTGGGGGTGGGGG
ENST00000683578.1:c.1845+31_1845+32insTTGGGGGTGGGGG	ENSP00000507430.1:n.1845+31_1845+32insTTGGGGGTGGGGG
ENST00000683606.1:n.1451+31_1451+32insTTGGGGGTGGGGG
ENST00000683661.1:n.3380+31_3380+32insTTGGGGGTGGGGG
ENST00000684324.1:c.1845+31_1845+32insTTGGGGGTGGGGG	ENSP00000507937.1:n.1845+31_1845+32insTTGGGGGTGGGGG
ENST00000684545.1:c.1845+31_1845+32insTTGGGGGTGGGGG	ENSP00000506733.1:n.1845+31_1845+32insTTGGGGGTGGGGG
ENST00000684624.1:n.1222+31_1222+32insTTGGGGGTGGGGG
ENST00000684714.1:c.*65+31_*65+32insTTGGGGGTGGGGG	ENSP00000506861.1:n.*65+31_*65+32insTTGGGGGTGGGGG
ENST00000684731.1:n.1172+31_1172+32insTTGGGGGTGGGGG
ENST00000375679.9:c.1845+31_1845+32insTTGGGGGTGGGGG MANE Select	ENSP00000364831.5:n.1845+31_1845+32insTTGGGGGTGGGGG
ENST00000375667.7:c.1338+31_1338+32insTTGGGGGTGGGGG	ENSP00000364819.3:n.1338+31_1338+32insTTGGGGGTGGGGG
ENST00000375679.8:c.1845+31_1845+32insTTGGGGGTGGGGG	ENSP00000364831.4:n.1845+31_1845+32insTTGGGGGTGGGGG
ENST00000431772.1:c.312+31_312+32insTTGGGGGTGGGGG	ENSP00000389344.1:n.312+31_312+32insTTGGGGGTGGGGG
ENST00000619181.4:c.1294-1633_1294-1632insTTGGGGGTGGGGG	ENSP00000483866.1:n.1294-1633_1294-1632insTTGGGGGTGGGGG
NM_000085.4:c.1845+31_1845+32insTTGGGGGTGGGGG	NP_000076.2:n.1845+31_1845+32insTTGGGGGTGGGGG
NM_001165945.2:c.1338+31_1338+32insTTGGGGGTGGGGG	NP_001159417.2:n.1338+31_1338+32insTTGGGGGTGGGGG
XM_011540619.1:c.1686+31_1686+32insTTGGGGGTGGGGG	XP_011538921.1:n.1686+31_1686+32insTTGGGGGTGGGGG
XM_011540621.1:c.1194+31_1194+32insTTGGGGGTGGGGG	XP_011538923.1:n.1194+31_1194+32insTTGGGGGTGGGGG
NM_000085.5:c.1845+31_1845+32insTTGGGGGTGGGGG MANE Select	NP_000076.2:n.1845+31_1845+32insTTGGGGGTGGGGG