Canonical Allele Identifier: CA6399708
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs756122351
ExAC: 12:5154056 CCG / C
gnomAD v2: 12-5154056-CCG-C
MyVariant Identifiers: chr12:g.5154057_5154058del (hg19) chr12:g.5044891_5044892del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044895_5044896del , CM000674.2:g.5044895_5044896del GRCh38
NC_000012.11:g.5154061_5154062del , CM000674.1:g.5154061_5154062del GRCh37
NC_000012.10:g.5024322_5024323del NCBI36
NG_012198.1:g.5977_5978del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.748_749del MANE Select ENSP00000252321.3:p.Arg250GlyfsTer24
ENST00000252321.4:c.748_749del ENSP00000252321.3:p.Arg250GlyfsTer24
NM_002234.3:c.748_749del NP_002225.2:p.Arg250GlyfsTer24
NM_002234.4:c.748_749del MANE Select NP_002225.2:p.Arg250GlyfsTer24
Search 100 bp 5'
Search 100 bp 3'