Canonical Allele Identifier: CA2643560225

Gene: CLCNKA

Linked Data

• gnomAD v4: 1-16024978-C-CAGCCTCATTTCTCAAGCCCAGAAGAGTTATGTGCCTTCAGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16025011_16025012insCCTTCAGGCAAGCCTCATTTCTCAAGCCCAGAAGAGTTATGTG , CM000663.2:g.16025011_16025012insCCTTCAGGCAAGCCTCATTTCTCAAGCCCAGAAGAGTTATGTG	GRCh38
NC_000001.10:g.16351506_16351507insCCTTCAGGCAAGCCTCATTTCTCAAGCCCAGAAGAGTTATGTG , CM000663.1:g.16351506_16351507insCCTTCAGGCAAGCCTCATTTCTCAAGCCCAGAAGAGTTATGTG	GRCh37
NC_000001.9:g.16224093_16224094insCCTTCAGGCAAGCCTCATTTCTCAAGCCCAGAAGAGTTATGTG	NCBI36
NG_009359.1:g.8021_8022insCCTTCAGGCAAGCCTCATTTCTCAAGCCCAGAAGAGTTATGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331433.5:c.358+120_358+121insCCTTCAGGCAAGCCTCATTTCTCAAGCCCAGAAGAGTTATGTG MANE Select	ENSP00000332771.4:n.358+120_358+121insCCTTCAGGCAAGCCTCATTTCTC...
ENST00000331433.4:c.358+120_358+121insCCTTCAGGCAAGCCTCATTTCTCAAGCCCAGAAGAGTTATGTG	ENSP00000332771.4:n.358+120_358+121insCCTTCAGGCAAGCCTCATTTCTC...
ENST00000375692.5:c.358+120_358+121insCCTTCAGGCAAGCCTCATTTCTCAAGCCCAGAAGAGTTATGTG	ENSP00000364844.1:n.358+120_358+121insCCTTCAGGCAAGCCTCATTTCTC...
ENST00000439316.6:c.229+1083_229+1084insCCTTCAGGCAAGCCTCATTTCTCAAGCCCAGAAGAGTTATGTG	ENSP00000414445.2:n.229+1083_229+1084insCCTTCAGGCAAGCCTCATTTC...
ENST00000464764.5:n.921+120_921+121insCCTTCAGGCAAGCCTCATTTCTCAAGCCCAGAAGAGTTATGTG
ENST00000495784.1:n.516+120_516+121insCCTTCAGGCAAGCCTCATTTCTCAAGCCCAGAAGAGTTATGTG
NM_001042704.1:c.358+120_358+121insCCTTCAGGCAAGCCTCATTTCTCAAGCCCAGAAGAGTTATGTG	NP_001036169.1:n.358+120_358+121insCCTTCAGGCAAGCCTCATTTCTCAAG...
NM_001257139.1:c.229+1083_229+1084insCCTTCAGGCAAGCCTCATTTCTCAAGCCCAGAAGAGTTATGTG	NP_001244068.1:n.229+1083_229+1084insCCTTCAGGCAAGCCTCATTTCTCA...
NM_004070.3:c.358+120_358+121insCCTTCAGGCAAGCCTCATTTCTCAAGCCCAGAAGAGTTATGTG	NP_004061.3:n.358+120_358+121insCCTTCAGGCAAGCCTCATTTCTCAAGCCC...
NM_004070.4:c.358+120_358+121insCCTTCAGGCAAGCCTCATTTCTCAAGCCCAGAAGAGTTATGTG MANE Select	NP_004061.3:n.358+120_358+121insCCTTCAGGCAAGCCTCATTTCTCAAGCCC...
NM_001042704.2:c.358+120_358+121insCCTTCAGGCAAGCCTCATTTCTCAAGCCCAGAAGAGTTATGTG	NP_001036169.1:n.358+120_358+121insCCTTCAGGCAAGCCTCATTTCTCAAG...
NM_001257139.2:c.229+1083_229+1084insCCTTCAGGCAAGCCTCATTTCTCAAGCCCAGAAGAGTTATGTG	NP_001244068.1:n.229+1083_229+1084insCCTTCAGGCAAGCCTCATTTCTCA...