Canonical Allele Identifier: CA2617209905
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5044992-TCCGCCACCCTCCGGCGCC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044995_5045012del , CM000674.2:g.5044995_5045012del GRCh38
NC_000012.11:g.5154161_5154178del , CM000674.1:g.5154161_5154178del GRCh37
NC_000012.10:g.5024422_5024439del NCBI36
NG_012198.1:g.6077_6094del

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.848_865del MANE Select ENSP00000252321.3:p.Arg283_Pro288del
ENST00000252321.4:c.848_865del ENSP00000252321.3:p.Arg283_Pro288del
NM_002234.3:c.848_865del NP_002225.2:p.Arg283_Pro288del
NM_002234.4:c.848_865del MANE Select NP_002225.2:p.Arg283_Pro288del
Search 100 bp 5'
Search 100 bp 3'