Canonical Allele Identifier: CA603482585
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1466314
ClinVar RCV Id: RCV001959473
dbSNP Id: rs1565464854
gnomAD v2: 12-5153344-GGC-G
gnomAD v3: 12-5044178-GGC-G
gnomAD v4: 12-5044178-GGC-G
MyVariant Identifiers: chr12:g.5153345_5153346del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044180_5044181del , CM000674.2:g.5044180_5044181del GRCh38
NC_000012.11:g.5153346_5153347del , CM000674.1:g.5153346_5153347del GRCh37
NC_000012.10:g.5023607_5023608del NCBI36
NG_012198.1:g.5262_5263del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.33_34del MANE Select ENSP00000252321.3:p.Gly12CysfsTer9
ENST00000252321.4:c.33_34del ENSP00000252321.3:p.Gly12CysfsTer9
NM_002234.3:c.33_34del NP_002225.2:p.Gly12CysfsTer9
NM_002234.4:c.33_34del MANE Select NP_002225.2:p.Gly12CysfsTer9
Search 100 bp 5'
Search 100 bp 3'