Canonical Allele Identifier: CA2697552225
Gene: CLCNKB HGNC NCBI

Linked Data

ClinVar Variation Id: 2699363
ClinVar RCV Id: RCV003544581

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16055361_16055701delinsGT , CM000663.2:g.16055361_16055701delinsGT GRCh38
NC_000001.10:g.16381856_16382196delinsGT , CM000663.1:g.16381856_16382196delinsGT GRCh37
NC_000001.9:g.16254443_16254783delinsGT NCBI36
NG_013079.1:g.16610_16950delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.1757-74_1872delinsGT
ENST00000682793.1:c.1757-74_1872delinsGT
ENST00000682838.1:c.*1499-74_*1611delinsGT
ENST00000683578.1:c.1757-74_1869delinsGT
ENST00000683606.1:n.1363-74_1475delinsGT
ENST00000683661.1:n.3292-74_3407delinsGT
ENST00000684324.1:c.1757-74_1872delinsGT
ENST00000684545.1:c.1757-74_1872delinsGT
ENST00000684624.1:n.1134-74_1249delinsGT
ENST00000684714.1:c.1708-74_*92delinsGT
ENST00000684731.1:n.1084-74_1199delinsGT
ENST00000375679.9:c.1757-74_1872delinsGT
ENST00000375667.7:c.1250-74_1362delinsGT
ENST00000375679.8:c.1757-74_1872delinsGT
ENST00000431772.1:c.224-74_336delinsGT
ENST00000619181.4:c.1293+1671_1294-1486delinsGT ENSP00000483866.1:n.1293+1671_1294-1486delinsGT
NM_000085.4:c.1757-74_1872delinsGT
NM_001165945.2:c.1250-74_1362delinsGT
XM_011540619.1:c.1598-74_1713delinsGT
XM_011540621.1:c.1106-74_1221delinsGT
NM_000085.5:c.1757-74_1872delinsGT