Canonical Allele Identifier: CA2725578713
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs2137772139
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044744_5044745del , CM000674.2:g.5044744_5044745del GRCh38
NC_000012.11:g.5153910_5153911del , CM000674.1:g.5153910_5153911del GRCh37
NC_000012.10:g.5024171_5024172del NCBI36
NG_012198.1:g.5826_5827del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.597_598del MANE Select ENSP00000252321.3:p.Glu199AspfsTer18
ENST00000252321.4:c.597_598del ENSP00000252321.3:p.Glu199AspfsTer18
NM_002234.3:c.597_598del NP_002225.2:p.Glu199AspfsTer18
NM_002234.4:c.597_598del MANE Select NP_002225.2:p.Glu199AspfsTer18
Search 100 bp 5'
Search 100 bp 3'