Canonical Allele Identifier: CA944255789
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1862741291
gnomAD v3: 12-5044188-TG-T
gnomAD v4: 12-5044188-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044189del , CM000674.2:g.5044189del GRCh38
NC_000012.11:g.5153355del , CM000674.1:g.5153355del GRCh37
NC_000012.10:g.5023616del NCBI36
NG_012198.1:g.5271del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.42del MANE Select ENSP00000252321.3:p.Met14IlefsTer?
ENST00000252321.4:c.42del ENSP00000252321.3:p.Met14IlefsTer?
NM_002234.3:c.42del NP_002225.2:p.Met14IlefsTer?
NM_002234.4:c.42del MANE Select NP_002225.2:p.Met14IlefsTer?
Search 100 bp 5'
Search 100 bp 3'