Canonical Allele Identifier: CA998973393

Gene: CLCNKA

Linked Data

• gnomAD v3: 1-16024531-G-GCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCA
• gnomAD v4: 1-16024531-G-GCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16024537_16024568dup , CM000663.2:g.16024537_16024568dup	GRCh38
NC_000001.10:g.16351032_16351063dup , CM000663.1:g.16351032_16351063dup	GRCh37
NC_000001.9:g.16223619_16223650dup	NCBI36
NG_009359.1:g.7547_7578dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331433.5:c.230-226_230-195dup MANE Select	ENSP00000332771.4:n.230-226_230-195dup
ENST00000331433.4:c.230-226_230-195dup	ENSP00000332771.4:n.230-226_230-195dup
ENST00000375692.5:c.230-226_230-195dup	ENSP00000364844.1:n.230-226_230-195dup
ENST00000439316.6:c.229+609_229+640dup	ENSP00000414445.2:n.229+609_229+640dup
ENST00000464764.5:n.889-322_889-291dup
ENST00000495784.1:n.388-226_388-195dup
NM_001042704.1:c.230-226_230-195dup	NP_001036169.1:n.230-226_230-195dup
NM_001257139.1:c.229+609_229+640dup	NP_001244068.1:n.229+609_229+640dup
NM_004070.3:c.230-226_230-195dup	NP_004061.3:n.230-226_230-195dup
NM_004070.4:c.230-226_230-195dup MANE Select	NP_004061.3:n.230-226_230-195dup
NM_001042704.2:c.230-226_230-195dup	NP_001036169.1:n.230-226_230-195dup
NM_001257139.2:c.229+609_229+640dup	NP_001244068.1:n.229+609_229+640dup