Canonical Allele Identifier: CA6399558
Gene: KCNA5 HGNC NCBI

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)
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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
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