Canonical Allele Identifier: CA6399558

Gene: KCNA5

Linked Data

• ClinVar Variation Id: 537316
• ClinVar RCV Id: RCV000646136 ; RCV001571532
• dbSNP Id: rs144879674
• ExAC: 12:5153497 TCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACC / T
• gnomAD v2: 12-5153497-TCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACC-T
• gnomAD v3: 12-5044331-TCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACC-T
• gnomAD v4: 12-5044331-TCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACC-T
• MyVariant Identifiers: chr12:g.5153526_5153558del (hg19) ; chr12:g.5153498_5153530del (hg19) ; chr12:g.5044360_5044392del (hg38) ; chr12:g.5044332_5044364del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044360_5044392del , CM000674.2:g.5044360_5044392del	GRCh38
NC_000012.11:g.5153526_5153558del , CM000674.1:g.5153526_5153558del	GRCh37
NC_000012.10:g.5023787_5023819del	NCBI36
NG_012198.1:g.5442_5474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.213_245del MANE Select	ENSP00000252321.3:p.Asp72_Pro82del
ENST00000252321.4:c.213_245del	ENSP00000252321.3:p.Asp72_Pro82del
NM_002234.3:c.213_245del	NP_002225.2:p.Asp72_Pro82del
NM_002234.4:c.213_245del MANE Select	NP_002225.2:p.Asp72_Pro82del