Canonical Allele Identifier: CA603482591
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1480687013
gnomAD v2: 12-5154747-GA-G
MyVariant Identifiers: chr12:g.5154748del (hg19) chr12:g.5045582del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045582del , CM000674.2:g.5045582del GRCh38
NC_000012.11:g.5154748del , CM000674.1:g.5154748del GRCh37
NC_000012.10:g.5025009del NCBI36
NG_012198.1:g.6664del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1435del MANE Select ENSP00000252321.3:p.Thr479ProfsTer8
ENST00000252321.4:c.1435del ENSP00000252321.3:p.Thr479ProfsTer8
NM_002234.3:c.1435del NP_002225.2:p.Thr479ProfsTer8
NM_002234.4:c.1435del MANE Select NP_002225.2:p.Thr479ProfsTer8
Search 100 bp 5'
Search 100 bp 3'