Canonical Allele Identifier: CA944246479
Gene: KCNA1 HGNC NCBI

Linked Data

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

HGVS Genome Assembly
NC_000012.12:g.4912610_4912611del , CM000674.2:g.4912610_4912611del GRCh38
NC_000012.11:g.5021776_5021777del , CM000674.1:g.5021776_5021777del GRCh37
NC_000012.10:g.4892037_4892038del NCBI36
NG_011815.1:g.7704_7705del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1232_1233del MANE Select ENSP00000371985.3:p.Phe411Ter
ENST00000543874.3:n.105+2138_105+2139del
ENST00000639306.1:c.1070_1071del ENSP00000492506.1:p.Phe357Ter
ENST00000639680.1:c.76+344_76+345del
ENST00000382545.3:c.1232_1233del ENSP00000371985.3:p.Phe411Ter
ENST00000541095.1:n.105+2138_105+2139del
ENST00000543874.2:n.96+2138_96+2139del
NM_000217.2:c.1232_1233del NP_000208.2:p.Phe411Ter
NM_000217.3:c.1232_1233del MANE Select NP_000208.2:p.Phe411Ter
Search 100 bp 5'
Search 100 bp 3'