Canonical Allele Identifier: CA2590820621
Gene: KCNA1 HGNC NCBI

Linked Data

gnomAD v3: 12-4912621-T-TGCTACGGCG
gnomAD v4: 12-4912621-T-TGCTACGGCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912621_4912622insGCTACGGCG , CM000674.2:g.4912621_4912622insGCTACGGCG GRCh38
NC_000012.11:g.5021787_5021788insGCTACGGCG , CM000674.1:g.5021787_5021788insGCTACGGCG GRCh37
NC_000012.10:g.4892048_4892049insGCTACGGCG NCBI36
NG_011815.1:g.7715_7716insGCTACGGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1243_1244insGCTACGGCG MANE Select ENSP00000371985.3:p.Tyr415delinsCysTyrGlyAsp
ENST00000543874.3:n.105+2149_105+2150insGCTACGGCG
ENST00000639306.1:c.1081_1082insGCTACGGCG ENSP00000492506.1:p.Tyr361delinsCysTyrGlyAsp
ENST00000639680.1:c.76+355_76+356insGCTACGGCG
ENST00000382545.3:c.1243_1244insGCTACGGCG ENSP00000371985.3:p.Tyr415delinsCysTyrGlyAsp
ENST00000541095.1:n.105+2149_105+2150insGCTACGGCG
ENST00000543874.2:n.96+2149_96+2150insGCTACGGCG
NM_000217.2:c.1243_1244insGCTACGGCG NP_000208.2:p.Tyr415delinsCysTyrGlyAsp
NM_000217.3:c.1243_1244insGCTACGGCG MANE Select NP_000208.2:p.Tyr415delinsCysTyrGlyAsp
Search 100 bp 5'
Search 100 bp 3'