Canonical Allele Identifier: CA521294345

Gene: CLCNKA

Linked Data

• dbSNP Id: rs1188548310
• gnomAD v2: 1-16351463-CG-C
• gnomAD v3: 1-16024968-CG-C
• gnomAD v4: 1-16024968-CG-C
• MyVariant Identifiers: chr1:g.16351464del (hg19) ; chr1:g.16024969del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16024971del , CM000663.2:g.16024971del	GRCh38
NC_000001.10:g.16351466del , CM000663.1:g.16351466del	GRCh37
NC_000001.9:g.16224053del	NCBI36
NG_009359.1:g.7981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331433.5:c.358+80del MANE Select	ENSP00000332771.4:n.358+80del
ENST00000331433.4:c.358+80del	ENSP00000332771.4:n.358+80del
ENST00000375692.5:c.358+80del	ENSP00000364844.1:n.358+80del
ENST00000439316.6:c.229+1043del	ENSP00000414445.2:n.229+1043del
ENST00000464764.5:n.921+80del
ENST00000495784.1:n.516+80del
NM_001042704.1:c.358+80del	NP_001036169.1:n.358+80del
NM_001257139.1:c.229+1043del	NP_001244068.1:n.229+1043del
NM_004070.3:c.358+80del	NP_004061.3:n.358+80del
NM_004070.4:c.358+80del MANE Select	NP_004061.3:n.358+80del
NM_001042704.2:c.358+80del	NP_001036169.1:n.358+80del
NM_001257139.2:c.229+1043del	NP_001244068.1:n.229+1043del