Canonical Allele Identifier: CA944246464
Gene: KCNA1 HGNC NCBI

Linked Data

gnomAD v3: 12-4912603-TCCAA-T
gnomAD v4: 12-4912603-TCCAA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912604_4912607del , CM000674.2:g.4912604_4912607del GRCh38
NC_000012.11:g.5021770_5021773del , CM000674.1:g.5021770_5021773del GRCh37
NC_000012.10:g.4892031_4892034del NCBI36
NG_011815.1:g.7698_7701del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1226_1229del MANE Select ENSP00000371985.3:p.Ser409PhefsTer26
ENST00000543874.3:n.105+2132_105+2135del
ENST00000639306.1:c.1064_1067del ENSP00000492506.1:p.Ser355PhefsTer26
ENST00000639680.1:c.76+338_76+341del
ENST00000382545.3:c.1226_1229del ENSP00000371985.3:p.Ser409PhefsTer26
ENST00000541095.1:n.105+2132_105+2135del
ENST00000543874.2:n.96+2132_96+2135del
NM_000217.2:c.1226_1229del NP_000208.2:p.Ser409PhefsTer26
NM_000217.3:c.1226_1229del MANE Select NP_000208.2:p.Ser409PhefsTer26
Search 100 bp 5'
Search 100 bp 3'