Canonical Allele Identifier: CA2739271828
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2819684
ClinVar RCV Id: RCV003627961
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911849_4911850insTCC , CM000674.2:g.4911849_4911850insTCC GRCh38
NC_000012.11:g.5021015_5021016insTCC , CM000674.1:g.5021015_5021016insTCC GRCh37
NC_000012.10:g.4891276_4891277insTCC NCBI36
NG_011815.1:g.6943_6944insTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.471_472insTCC MANE Select ENSP00000371985.3:p.Phe157_Glu158insSer
ENST00000543874.3:n.105+1377_105+1378insTCC
ENST00000639306.1:c.309_310insTCC ENSP00000492506.1:p.Phe103_Glu104insSer
ENST00000382545.3:c.471_472insTCC ENSP00000371985.3:p.Phe157_Glu158insSer
ENST00000541095.1:n.105+1377_105+1378insTCC
ENST00000543874.2:n.96+1377_96+1378insTCC
NM_000217.2:c.471_472insTCC NP_000208.2:p.Phe157_Glu158insSer
NM_000217.3:c.471_472insTCC MANE Select NP_000208.2:p.Phe157_Glu158insSer
Search 100 bp 5'
Search 100 bp 3'