Canonical Allele Identifier: CA944246524
Gene: KCNA1 HGNC NCBI

Linked Data

gnomAD v3: 12-4912619-T-TA
gnomAD v4: 12-4912619-T-TA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912619_4912620insA , CM000674.2:g.4912619_4912620insA GRCh38
NC_000012.11:g.5021785_5021786insA , CM000674.1:g.5021785_5021786insA GRCh37
NC_000012.10:g.4892046_4892047insA NCBI36
NG_011815.1:g.7713_7714insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1241_1242insA MANE Select ENSP00000371985.3:p.Phe414LeufsTer7
ENST00000543874.3:n.105+2147_105+2148insA
ENST00000639306.1:c.1079_1080insA ENSP00000492506.1:p.Phe360LeufsTer7
ENST00000639680.1:c.76+353_76+354insA
ENST00000382545.3:c.1241_1242insA ENSP00000371985.3:p.Phe414LeufsTer7
ENST00000541095.1:n.105+2147_105+2148insA
ENST00000543874.2:n.96+2147_96+2148insA
NM_000217.2:c.1241_1242insA NP_000208.2:p.Phe414LeufsTer7
NM_000217.3:c.1241_1242insA MANE Select NP_000208.2:p.Phe414LeufsTer7
Search 100 bp 5'
Search 100 bp 3'