Canonical Allele Identifier: CA944246541
Gene: KCNA1 HGNC NCBI

Linked Data

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

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912623_4912624insGGCGAC , CM000674.2:g.4912623_4912624insGGCGAC GRCh38
NC_000012.11:g.5021789_5021790insGGCGAC , CM000674.1:g.5021789_5021790insGGCGAC GRCh37
NC_000012.10:g.4892050_4892051insGGCGAC NCBI36
NG_011815.1:g.7717_7718insGGCGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1245_1246insGGCGAC MANE Select ENSP00000371985.3:p.Tyr415_His416insGlyAsp
ENST00000543874.3:n.105+2151_105+2152insGGCGAC
ENST00000639306.1:c.1083_1084insGGCGAC ENSP00000492506.1:p.Tyr361_His362insGlyAsp
ENST00000639680.1:c.76+357_76+358insGGCGAC
ENST00000382545.3:c.1245_1246insGGCGAC ENSP00000371985.3:p.Tyr415_His416insGlyAsp
ENST00000541095.1:n.105+2151_105+2152insGGCGAC
ENST00000543874.2:n.96+2151_96+2152insGGCGAC
NM_000217.2:c.1245_1246insGGCGAC NP_000208.2:p.Tyr415_His416insGlyAsp
NM_000217.3:c.1245_1246insGGCGAC MANE Select NP_000208.2:p.Tyr415_His416insGlyAsp
Search 100 bp 5'
Search 100 bp 3'