Canonical Allele Identifier: CA2013367816
Gene: KCNA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912237_4912238delinsTC , CM000674.2:g.4912237_4912238delinsTC GRCh38
NC_000012.11:g.5021403_5021404delinsTC , CM000674.1:g.5021403_5021404delinsTC GRCh37
NC_000012.10:g.4891664_4891665delinsTC NCBI36
NG_011815.1:g.7331_7332delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.859_860delinsTC MANE Select ENSP00000371985.3:p.Ser287=
ENST00000543874.3:n.105+1765_105+1766delinsTC
ENST00000639306.1:c.697_698delinsTC ENSP00000492506.1:p.Ser233=
ENST00000639680.1:c.47_48delinsTC
ENST00000382545.3:c.859_860delinsTC ENSP00000371985.3:p.Ser287=
ENST00000541095.1:n.105+1765_105+1766delinsTC
ENST00000543874.2:n.96+1765_96+1766delinsTC
NM_000217.2:c.859_860delinsTC NP_000208.2:p.Ser287=
NM_000217.3:c.859_860delinsTC MANE Select NP_000208.2:p.Ser287=