Canonical Allele Identifier: CA2013430604

Gene: KCNA5

Linked Data

• dbSNP Id: rs1862744087
• gnomAD v4: 12-5044316-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044322_5044323del , CM000674.2:g.5044322_5044323del	GRCh38
NC_000012.11:g.5153488_5153489del , CM000674.1:g.5153488_5153489del	GRCh37
NC_000012.10:g.5023749_5023750del	NCBI36
NG_012198.1:g.5404_5405del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.175_176del MANE Select	ENSP00000252321.3:p.Asp59ArgfsTer?
ENST00000252321.4:c.175_176del	ENSP00000252321.3:p.Asp59ArgfsTer?
NM_002234.3:c.175_176del	NP_002225.2:p.Asp59ArgfsTer?
NM_002234.4:c.175_176del MANE Select	NP_002225.2:p.Asp59ArgfsTer?