Canonical Allele Identifier: CA2013367821
Gene: KCNA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912245_4912250delinsCATCCT , CM000674.2:g.4912245_4912250delinsCATCCT GRCh38
NC_000012.11:g.5021411_5021416delinsCATCCT , CM000674.1:g.5021411_5021416delinsCATCCT GRCh37
NC_000012.10:g.4891672_4891677delinsCATCCT NCBI36
NG_011815.1:g.7339_7344delinsCATCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.867_872delinsCATCCT MANE Select ENSP00000371985.3:p.Ala289=
ENST00000543874.3:n.105+1773_105+1778delinsCATCCT
ENST00000639306.1:c.705_710delinsCATCCT ENSP00000492506.1:p.Ala235=
ENST00000639680.1:c.55_60delinsCATCCT
ENST00000382545.3:c.867_872delinsCATCCT ENSP00000371985.3:p.Ala289=
ENST00000541095.1:n.105+1773_105+1778delinsCATCCT
ENST00000543874.2:n.96+1773_96+1778delinsCATCCT
NM_000217.2:c.867_872delinsCATCCT NP_000208.2:p.Ala289=
NM_000217.3:c.867_872delinsCATCCT MANE Select NP_000208.2:p.Ala289=