Canonical Allele Identifier: CA2013430602
Gene: KCNA5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044316_5044318delinsCAG , CM000674.2:g.5044316_5044318delinsCAG GRCh38
NC_000012.11:g.5153482_5153484delinsCAG , CM000674.1:g.5153482_5153484delinsCAG GRCh37
NC_000012.10:g.5023743_5023745delinsCAG NCBI36
NG_012198.1:g.5398_5400delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.169_171delinsCAG MANE Select ENSP00000252321.3:p.Gln57=
ENST00000252321.4:c.169_171delinsCAG ENSP00000252321.3:p.Gln57=
NM_002234.3:c.169_171delinsCAG NP_002225.2:p.Gln57=
NM_002234.4:c.169_171delinsCAG MANE Select NP_002225.2:p.Gln57=
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