Canonical Allele Identifier: CA603482590
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1565465652
gnomAD v2: 12-5154226-GCC-G
gnomAD v4: 12-5045060-GCC-G
MyVariant Identifiers: chr12:g.5154227_5154228del (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045063_5045064del , CM000674.2:g.5045063_5045064del GRCh38
NC_000012.11:g.5154229_5154230del , CM000674.1:g.5154229_5154230del GRCh37
NC_000012.10:g.5024490_5024491del NCBI36
NG_012198.1:g.6145_6146del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.916_917del MANE Select ENSP00000252321.3:p.Pro306AlafsTer?
ENST00000252321.4:c.916_917del ENSP00000252321.3:p.Pro306AlafsTer?
NM_002234.3:c.916_917del NP_002225.2:p.Pro306AlafsTer?
NM_002234.4:c.916_917del MANE Select NP_002225.2:p.Pro306AlafsTer?
Search 100 bp 5'
Search 100 bp 3'