Canonical Allele Identifier: CA2013367933
Gene: KCNA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912635_4912644delinsTGAGGGGGAA , CM000674.2:g.4912635_4912644delinsTGAGGGGGAA GRCh38
NC_000012.11:g.5021801_5021810delinsTGAGGGGGAA , CM000674.1:g.5021801_5021810delinsTGAGGGGGAA GRCh37
NC_000012.10:g.4892062_4892071delinsTGAGGGGGAA NCBI36
NG_011815.1:g.7729_7738delinsTGAGGGGGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1257_1266delinsTGAGGGGGAA MANE Select ENSP00000371985.3:p.Thr419=
ENST00000543874.3:n.105+2163_105+2172delinsTGAGGGGGAA
ENST00000639306.1:c.1095_1104delinsTGAGGGGGAA ENSP00000492506.1:p.Thr365=
ENST00000639680.1:c.76+369_76+378delinsTGAGGGGGAA
ENST00000382545.3:c.1257_1266delinsTGAGGGGGAA ENSP00000371985.3:p.Thr419=
ENST00000541095.1:n.105+2163_105+2172delinsTGAGGGGGAA
ENST00000543874.2:n.96+2163_96+2172delinsTGAGGGGGAA
NM_000217.2:c.1257_1266delinsTGAGGGGGAA NP_000208.2:p.Thr419=
NM_000217.3:c.1257_1266delinsTGAGGGGGAA MANE Select NP_000208.2:p.Thr419=
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