Canonical Allele Identifier: CA2617209926

Gene: KCNA5

Linked Data

• gnomAD v4: 12-5045687-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5045688del , CM000674.2:g.5045688del	GRCh38
NC_000012.11:g.5154854del , CM000674.1:g.5154854del	GRCh37
NC_000012.10:g.5025115del	NCBI36
NG_012198.1:g.6770del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.1541del MANE Select	ENSP00000252321.3:p.Val514AlafsTer?
ENST00000252321.4:c.1541del	ENSP00000252321.3:p.Val514AlafsTer?
NM_002234.3:c.1541del	NP_002225.2:p.Val514AlafsTer?
NM_002234.4:c.1541del MANE Select	NP_002225.2:p.Val514AlafsTer?