Canonical Allele Identifier: CA944246510
Gene: KCNA1 HGNC NCBI

Linked Data

gnomAD v3: 12-4912613-A-ATG
gnomAD v4: 12-4912613-A-ATG
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912613_4912614insTG , CM000674.2:g.4912613_4912614insTG GRCh38
NC_000012.11:g.5021779_5021780insTG , CM000674.1:g.5021779_5021780insTG GRCh37
NC_000012.10:g.4892040_4892041insTG NCBI36
NG_011815.1:g.7707_7708insTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1235_1236insTG MANE Select ENSP00000371985.3:p.Tyr413AlafsTer24
ENST00000543874.3:n.105+2141_105+2142insTG
ENST00000639306.1:c.1073_1074insTG ENSP00000492506.1:p.Tyr359AlafsTer24
ENST00000639680.1:c.76+347_76+348insTG
ENST00000382545.3:c.1235_1236insTG ENSP00000371985.3:p.Tyr413AlafsTer24
ENST00000541095.1:n.105+2141_105+2142insTG
ENST00000543874.2:n.96+2141_96+2142insTG
NM_000217.2:c.1235_1236insTG NP_000208.2:p.Tyr413AlafsTer24
NM_000217.3:c.1235_1236insTG MANE Select NP_000208.2:p.Tyr413AlafsTer24
Search 100 bp 5'
Search 100 bp 3'