Canonical Allele Identifier: CA603482588
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 504248
ClinVar RCV Id: RCV000598935 RCV002532701
dbSNP Id: rs1387839123
gnomAD v2: 12-5153989-C-CCCCT
gnomAD v3: 12-5044823-C-CCCCT
gnomAD v4: 12-5044823-C-CCCCT
MyVariant Identifiers: chr12:g.5153990_5153993dup (hg19) chr12:g.5153989_5153990insCCCT (hg19) chr12:g.5044824_5044827dup (hg38) chr12:g.5044823_5044824insCCCT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044824_5044827dup , CM000674.2:g.5044824_5044827dup GRCh38
NC_000012.11:g.5153990_5153993dup , CM000674.1:g.5153990_5153993dup GRCh37
NC_000012.10:g.5024251_5024254dup NCBI36
NG_012198.1:g.5906_5909dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.677_680dup MANE Select ENSP00000252321.3:p.Arg229AlafsTer?
ENST00000252321.4:c.677_680dup ENSP00000252321.3:p.Arg229AlafsTer?
NM_002234.3:c.677_680dup NP_002225.2:p.Arg229AlafsTer?
NM_002234.4:c.677_680dup MANE Select NP_002225.2:p.Arg229AlafsTer?
Search 100 bp 5'
Search 100 bp 3'