Canonical Allele Identifier: CA2697559074
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2754439
ClinVar RCV Id: RCV003515075
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045035del , CM000674.2:g.5045035del GRCh38
NC_000012.11:g.5154201del , CM000674.1:g.5154201del GRCh37
NC_000012.10:g.5024462del NCBI36
NG_012198.1:g.6117del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.888del MANE Select ENSP00000252321.3:p.Ala298ProfsTer?
ENST00000252321.4:c.888del ENSP00000252321.3:p.Ala298ProfsTer?
NM_002234.3:c.888del NP_002225.2:p.Ala298ProfsTer?
NM_002234.4:c.888del MANE Select NP_002225.2:p.Ala298ProfsTer?
Search 100 bp 5'
Search 100 bp 3'