Canonical Allele Identifier: CA603482564
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 469589
ClinVar RCV Id: RCV000527352
dbSNP Id: rs144879674
gnomAD v2: 12-5153497-T-TCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACC
gnomAD v3: 12-5044331-T-TCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACC
gnomAD v4: 12-5044331-T-TCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACC
MyVariant Identifiers: chr12:g.5153526_5153558dup (hg19) chr12:g.5153530_5153531insCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACC (hg19) chr12:g.5044360_5044392dup (hg38) chr12:g.5044364_5044365insCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044360_5044392dup , CM000674.2:g.5044360_5044392dup GRCh38
NC_000012.11:g.5153526_5153558dup , CM000674.1:g.5153526_5153558dup GRCh37
NC_000012.10:g.5023787_5023819dup NCBI36
NG_012198.1:g.5442_5474dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.213_245dup MANE Select ENSP00000252321.3:p.Pro82_Glu83insAspProGlyValArgProLeuProPro...
ENST00000252321.4:c.213_245dup ENSP00000252321.3:p.Pro82_Glu83insAspProGlyValArgProLeuProPro...
NM_002234.3:c.213_245dup NP_002225.2:p.Pro82_Glu83insAspProGlyValArgProLeuProProLeuPro...
NM_002234.4:c.213_245dup MANE Select NP_002225.2:p.Pro82_Glu83insAspProGlyValArgProLeuProProLeuPro...
Search 100 bp 5'
Search 100 bp 3'