Canonical Allele Identifier: CA2013431302
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1862768001
gnomAD v4: 12-5045613-TCA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045615_5045616del , CM000674.2:g.5045615_5045616del GRCh38
NC_000012.11:g.5154781_5154782del , CM000674.1:g.5154781_5154782del GRCh37
NC_000012.10:g.5025042_5025043del NCBI36
NG_012198.1:g.6697_6698del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1468_1469del MANE Select ENSP00000252321.3:p.Thr490CysfsTer?
ENST00000252321.4:c.1468_1469del ENSP00000252321.3:p.Thr490CysfsTer?
NM_002234.3:c.1468_1469del NP_002225.2:p.Thr490CysfsTer?
NM_002234.4:c.1468_1469del MANE Select NP_002225.2:p.Thr490CysfsTer?
Search 100 bp 5'
Search 100 bp 3'