Canonical Allele Identifier: CA2643565382

Gene: CLCNKB

Linked Data

• gnomAD v4: 1-16055550-T-TTGGGTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055550_16055551insTGGGTTG , CM000663.2:g.16055550_16055551insTGGGTTG	GRCh38
NC_000001.10:g.16382045_16382046insTGGGTTG , CM000663.1:g.16382045_16382046insTGGGTTG	GRCh37
NC_000001.9:g.16254632_16254633insTGGGTTG	NCBI36
NG_013079.1:g.16799_16800insTGGGTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1845+27_1845+28insTGGGTTG	ENSP00000507062.1:n.1845+27_1845+28insTGGGTTG
ENST00000682793.1:c.1845+27_1845+28insTGGGTTG	ENSP00000506910.1:n.1845+27_1845+28insTGGGTTG
ENST00000682838.1:c.*1587+27_*1587+28insTGGGTTG	ENSP00000507652.1:n.*1587+27_*1587+28insTGGGTTG
ENST00000683578.1:c.1845+27_1845+28insTGGGTTG	ENSP00000507430.1:n.1845+27_1845+28insTGGGTTG
ENST00000683606.1:n.1451+27_1451+28insTGGGTTG
ENST00000683661.1:n.3380+27_3380+28insTGGGTTG
ENST00000684324.1:c.1845+27_1845+28insTGGGTTG	ENSP00000507937.1:n.1845+27_1845+28insTGGGTTG
ENST00000684545.1:c.1845+27_1845+28insTGGGTTG	ENSP00000506733.1:n.1845+27_1845+28insTGGGTTG
ENST00000684624.1:n.1222+27_1222+28insTGGGTTG
ENST00000684714.1:c.*65+27_*65+28insTGGGTTG	ENSP00000506861.1:n.*65+27_*65+28insTGGGTTG
ENST00000684731.1:n.1172+27_1172+28insTGGGTTG
ENST00000375679.9:c.1845+27_1845+28insTGGGTTG MANE Select	ENSP00000364831.5:n.1845+27_1845+28insTGGGTTG
ENST00000375667.7:c.1338+27_1338+28insTGGGTTG	ENSP00000364819.3:n.1338+27_1338+28insTGGGTTG
ENST00000375679.8:c.1845+27_1845+28insTGGGTTG	ENSP00000364831.4:n.1845+27_1845+28insTGGGTTG
ENST00000431772.1:c.312+27_312+28insTGGGTTG	ENSP00000389344.1:n.312+27_312+28insTGGGTTG
ENST00000619181.4:c.1294-1637_1294-1636insTGGGTTG	ENSP00000483866.1:n.1294-1637_1294-1636insTGGGTTG
NM_000085.4:c.1845+27_1845+28insTGGGTTG	NP_000076.2:n.1845+27_1845+28insTGGGTTG
NM_001165945.2:c.1338+27_1338+28insTGGGTTG	NP_001159417.2:n.1338+27_1338+28insTGGGTTG
XM_011540619.1:c.1686+27_1686+28insTGGGTTG	XP_011538921.1:n.1686+27_1686+28insTGGGTTG
XM_011540621.1:c.1194+27_1194+28insTGGGTTG	XP_011538923.1:n.1194+27_1194+28insTGGGTTG
NM_000085.5:c.1845+27_1845+28insTGGGTTG MANE Select	NP_000076.2:n.1845+27_1845+28insTGGGTTG