Canonical Allele Identifier: CA2580060596

Gene: CLCNKB

Linked Data

• ClinVar Variation Id: 2184827
• ClinVar RCV Id: RCV002603510

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16051473_16051474delinsTG , CM000663.2:g.16051473_16051474delinsTG	GRCh38
NC_000001.10:g.16377968_16377969delinsTG , CM000663.1:g.16377968_16377969delinsTG	GRCh37
NC_000001.9:g.16250555_16250556delinsTG	NCBI36
NG_013079.1:g.12722_12723delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000682338.1:c.1228-5_1228-4delinsTG	ENSP00000507062.1:n.1228-5_1228-4delinsTG...
ENST00000682793.1:c.1228-5_1228-4delinsTG	ENSP00000506910.1:n.1228-5_1228-4delinsTG...
ENST00000682838.1:c.*970-5_*970-4delinsTG	ENSP00000507652.1:n.*970-5_*970-4delinsTG...
ENST00000683578.1:c.1228-5_1228-4delinsTG	ENSP00000507430.1:n.1228-5_1228-4delinsTG...
ENST00000683606.1:n.843-5_843-4delinsTG
ENST00000683661.1:n.2763-5_2763-4delinsTG
ENST00000684324.1:c.1228-5_1228-4delinsTG	ENSP00000507937.1:n.1228-5_1228-4delinsTG...
ENST00000684545.1:c.1228-5_1228-4delinsTG	ENSP00000506733.1:n.1228-5_1228-4delinsTG...
ENST00000684624.1:n.605-5_605-4delinsTG
ENST00000684714.1:c.1228-5_1228-4delinsTG	ENSP00000506861.1:n.1228-5_1228-4delinsTG...
ENST00000684731.1:n.689-5_689-4delinsTG
ENST00000375679.9:c.1228-5_1228-4delinsTG MANE Select	ENSP00000364831.5:n.1228-5_1228-4delinsTG...
ENST00000375667.7:c.721-5_721-4delinsTG	ENSP00000364819.3:n.721-5_721-4delinsTG
ENST00000375679.8:c.1228-5_1228-4delinsTG	ENSP00000364831.4:n.1228-5_1228-4delinsTG...
ENST00000619181.4:c.847-5_847-4delinsTG	ENSP00000483866.1:n.847-5_847-4delinsTG
NM_000085.4:c.1228-5_1228-4delinsTG	NP_000076.2:n.1228-5_1228-4delinsTG
NM_001165945.2:c.721-5_721-4delinsTG	NP_001159417.2:n.721-5_721-4delinsTG
XM_011540619.1:c.1069-5_1069-4delinsTG	XP_011538921.1:n.1069-5_1069-4delinsTG
XM_011540620.1:c.1228-5_1228-4delinsTG	XP_011538922.1:n.1228-5_1228-4delinsTG
XM_011540621.1:c.577-5_577-4delinsTG	XP_011538923.1:n.577-5_577-4delinsTG
NM_000085.5:c.1228-5_1228-4delinsTG MANE Select	NP_000076.2:n.1228-5_1228-4delinsTG