Canonical Allele Identifier: CA622167

Gene: CLCNKA

Linked Data

• dbSNP Id: rs758603402
• ExAC: 1:16351300 T / TC
• gnomAD v2: 1-16351300-T-TC
• gnomAD v4: 1-16024805-T-TC
• MyVariant Identifiers: chr1:g.16351300_16351301insC (hg19) ; chr1:g.16024805_16024806insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16024807dup , CM000663.2:g.16024807dup	GRCh38
NC_000001.10:g.16351302dup , CM000663.1:g.16351302dup	GRCh37
NC_000001.9:g.16223889dup	NCBI36
NG_009359.1:g.7817dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331433.5:c.274dup MANE Select	ENSP00000332771.4:p.Arg92ProfsTer?
ENST00000331433.4:c.274dup	ENSP00000332771.4:p.Arg92ProfsTer?
ENST00000375692.5:c.274dup	ENSP00000364844.1:p.Arg92ProfsTer?
ENST00000439316.6:c.229+879dup	ENSP00000414445.2:n.229+879dup
ENST00000464764.5:n.889-52dup
ENST00000495784.1:n.432dup
NM_001042704.1:c.274dup	NP_001036169.1:p.Arg92ProfsTer?
NM_001257139.1:c.229+879dup	NP_001244068.1:n.229+879dup
NM_004070.3:c.274dup	NP_004061.3:p.Arg92ProfsTer?
NM_004070.4:c.274dup MANE Select	NP_004061.3:p.Arg92ProfsTer?
NM_001042704.2:c.274dup	NP_001036169.1:p.Arg92ProfsTer?
NM_001257139.2:c.229+879dup	NP_001244068.1:n.229+879dup