Canonical Allele Identifier: CA2013367937
Gene: KCNA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912649_4912651delinsAGG , CM000674.2:g.4912649_4912651delinsAGG GRCh38
NC_000012.11:g.5021815_5021817delinsAGG , CM000674.1:g.5021815_5021817delinsAGG GRCh37
NC_000012.10:g.4892076_4892078delinsAGG NCBI36
NG_011815.1:g.7743_7745delinsAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1271_1273delinsAGG MANE Select ENSP00000371985.3:p.Gln424=
ENST00000543874.3:n.105+2177_105+2179delinsAGG
ENST00000639306.1:c.1109_1111delinsAGG ENSP00000492506.1:p.Gln370=
ENST00000639680.1:c.76+383_76+385delinsAGG
ENST00000382545.3:c.1271_1273delinsAGG ENSP00000371985.3:p.Gln424=
ENST00000541095.1:n.105+2177_105+2179delinsAGG
ENST00000543874.2:n.96+2177_96+2179delinsAGG
NM_000217.2:c.1271_1273delinsAGG NP_000208.2:p.Gln424=
NM_000217.3:c.1271_1273delinsAGG MANE Select NP_000208.2:p.Gln424=
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