Canonical Allele Identifier: CA2643560126

Gene: CLCNKA

Linked Data

• gnomAD v4: 1-16024879-CCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16024884_16024886del , CM000663.2:g.16024884_16024886del	GRCh38
NC_000001.10:g.16351379_16351381del , CM000663.1:g.16351379_16351381del	GRCh37
NC_000001.9:g.16223966_16223968del	NCBI36
NG_009359.1:g.7894_7896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331433.5:c.351_353del MANE Select	ENSP00000332771.4:p.Ser118del
ENST00000331433.4:c.351_353del	ENSP00000332771.4:p.Ser118del
ENST00000375692.5:c.351_353del	ENSP00000364844.1:p.Ser118del
ENST00000439316.6:c.229+956_229+958del	ENSP00000414445.2:n.229+956_229+958del
ENST00000464764.5:n.914_916del
ENST00000495784.1:n.509_511del
NM_001042704.1:c.351_353del	NP_001036169.1:p.Ser118del
NM_001257139.1:c.229+956_229+958del	NP_001244068.1:n.229+956_229+958del
NM_004070.3:c.351_353del	NP_004061.3:p.Ser118del
NM_004070.4:c.351_353del MANE Select	NP_004061.3:p.Ser118del
NM_001042704.2:c.351_353del	NP_001036169.1:p.Ser118del
NM_001257139.2:c.229+956_229+958del	NP_001244068.1:n.229+956_229+958del