Canonical Allele Identifier: CA2013430939
Gene: KCNA5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044890_5044892delinsCCG , CM000674.2:g.5044890_5044892delinsCCG GRCh38
NC_000012.11:g.5154056_5154058delinsCCG , CM000674.1:g.5154056_5154058delinsCCG GRCh37
NC_000012.10:g.5024317_5024319delinsCCG NCBI36
NG_012198.1:g.5972_5974delinsCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.743_745delinsCCG MANE Select ENSP00000252321.3:p.Ser248=
ENST00000252321.4:c.743_745delinsCCG ENSP00000252321.3:p.Ser248=
NM_002234.3:c.743_745delinsCCG NP_002225.2:p.Ser248=
NM_002234.4:c.743_745delinsCCG MANE Select NP_002225.2:p.Ser248=
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