Canonical Allele Identifier: CA521294337
Gene: CLCNKA HGNC NCBI

Linked Data

dbSNP Id: rs1557448599
gnomAD v2: 1-16351253-CCCAGCACACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTTT-C
gnomAD v3: 1-16024758-CCCAGCACACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTTT-C
gnomAD v4: 1-16024758-CCCAGCACACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTTT-C
MyVariant Identifiers: chr1:g.16351254_16351311del (hg19) chr1:g.16024759_16024816del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16024761_16024818del , CM000663.2:g.16024761_16024818del GRCh38
NC_000001.10:g.16351256_16351313del , CM000663.1:g.16351256_16351313del GRCh37
NC_000001.9:g.16223843_16223900del NCBI36
NG_009359.1:g.7771_7828del

Transcript Alleles

HGVS Amino-acid change
ENST00000331433.5:c.230-2_285del
ENST00000331433.4:c.230-2_285del
ENST00000375692.5:c.230-2_285del
ENST00000439316.6:c.229+833_229+890del ENSP00000414445.2:n.229+833_229+890del
ENST00000464764.5:n.889-98_889-41del
ENST00000495784.1:n.388-2_443del
NM_001042704.1:c.230-2_285del
NM_001257139.1:c.229+833_229+890del NP_001244068.1:n.229+833_229+890del
NM_004070.3:c.230-2_285del
NM_004070.4:c.230-2_285del
NM_001042704.2:c.230-2_285del
NM_001257139.2:c.229+833_229+890del NP_001244068.1:n.229+833_229+890del
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