Canonical Allele Identifier: CA944246471
Gene: KCNA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912606_4912607del , CM000674.2:g.4912606_4912607del GRCh38
NC_000012.11:g.5021772_5021773del , CM000674.1:g.5021772_5021773del GRCh37
NC_000012.10:g.4892033_4892034del NCBI36
NG_011815.1:g.7700_7701del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1228_1229del MANE Select ENSP00000371985.3:p.Asn410PhefsTer10
ENST00000543874.3:n.105+2134_105+2135del
ENST00000639306.1:c.1066_1067del ENSP00000492506.1:p.Asn356PhefsTer10
ENST00000639680.1:c.76+340_76+341del
ENST00000382545.3:c.1228_1229del ENSP00000371985.3:p.Asn410PhefsTer10
ENST00000541095.1:n.105+2134_105+2135del
ENST00000543874.2:n.96+2134_96+2135del
NM_000217.2:c.1228_1229del NP_000208.2:p.Asn410PhefsTer10
NM_000217.3:c.1228_1229del MANE Select NP_000208.2:p.Asn410PhefsTer10