Canonical Allele Identifier: CA944246473
Gene: KCNA1 HGNC NCBI

Linked Data

gnomAD v3: 12-4912609-TTCAAC-T
gnomAD v4: 12-4912609-TTCAAC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912611_4912615del , CM000674.2:g.4912611_4912615del GRCh38
NC_000012.11:g.5021777_5021781del , CM000674.1:g.5021777_5021781del GRCh37
NC_000012.10:g.4892038_4892042del NCBI36
NG_011815.1:g.7705_7709del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1233_1237del MANE Select ENSP00000371985.3:p.Phe411LeufsTer8
ENST00000543874.3:n.105+2139_105+2143del
ENST00000639306.1:c.1071_1075del ENSP00000492506.1:p.Phe357LeufsTer8
ENST00000639680.1:c.76+345_76+349del
ENST00000382545.3:c.1233_1237del ENSP00000371985.3:p.Phe411LeufsTer8
ENST00000541095.1:n.105+2139_105+2143del
ENST00000543874.2:n.96+2139_96+2143del
NM_000217.2:c.1233_1237del NP_000208.2:p.Phe411LeufsTer8
NM_000217.3:c.1233_1237del MANE Select NP_000208.2:p.Phe411LeufsTer8
Search 100 bp 5'
Search 100 bp 3'