Canonical Allele Identifier: CA2013431243
Gene: KCNA5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045459_5045462delinsATCT , CM000674.2:g.5045459_5045462delinsATCT GRCh38
NC_000012.11:g.5154625_5154628delinsATCT , CM000674.1:g.5154625_5154628delinsATCT GRCh37
NC_000012.10:g.5024886_5024889delinsATCT NCBI36
NG_012198.1:g.6541_6544delinsATCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1312_1315delinsATCT MANE Select ENSP00000252321.3:p.Ile438=
ENST00000252321.4:c.1312_1315delinsATCT ENSP00000252321.3:p.Ile438=
NM_002234.3:c.1312_1315delinsATCT NP_002225.2:p.Ile438=
NM_002234.4:c.1312_1315delinsATCT MANE Select NP_002225.2:p.Ile438=
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