Canonical Allele Identifier: CA6399924
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1677727
ClinVar RCV Id: RCV002224469
dbSNP Id: rs775973056

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045844_5045845del , CM000674.2:g.5045844_5045845del GRCh38
NC_000012.11:g.5155010_5155011del , CM000674.1:g.5155010_5155011del GRCh37
NC_000012.10:g.5025271_5025272del NCBI36
NG_012198.1:g.6926_6927del

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.1697_1698del MANE Select ENSP00000252321.3:p.Ala566GlyfsTer21
ENST00000252321.4:c.1697_1698del ENSP00000252321.3:p.Ala566GlyfsTer21
NM_002234.3:c.1697_1698del NP_002225.2:p.Ala566GlyfsTer21
NM_002234.4:c.1697_1698del MANE Select NP_002225.2:p.Ala566GlyfsTer21