Canonical Allele Identifier: CA2573148460
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1677503
ClinVar RCV Id: RCV002224245
dbSNP Id: rs2137772978
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045200del , CM000674.2:g.5045200del GRCh38
NC_000012.11:g.5154366del , CM000674.1:g.5154366del GRCh37
NC_000012.10:g.5024627del NCBI36
NG_012198.1:g.6282del

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.1053del MANE Select ENSP00000252321.3:p.Phe352SerfsTer6
ENST00000252321.4:c.1053del ENSP00000252321.3:p.Phe352SerfsTer6
NM_002234.3:c.1053del NP_002225.2:p.Phe352SerfsTer6
NM_002234.4:c.1053del MANE Select NP_002225.2:p.Phe352SerfsTer6
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