Canonical Allele Identifier: CA2617209917

Gene: KCNA5

Linked Data

• gnomAD v4: 12-5045279-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5045279_5045280insC , CM000674.2:g.5045279_5045280insC	GRCh38
NC_000012.11:g.5154445_5154446insC , CM000674.1:g.5154445_5154446insC	GRCh37
NC_000012.10:g.5024706_5024707insC	NCBI36
NG_012198.1:g.6361_6362insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.1132_1133insC MANE Select	ENSP00000252321.3:p.Glu378AlafsTer?
ENST00000252321.4:c.1132_1133insC	ENSP00000252321.3:p.Glu378AlafsTer?
NM_002234.3:c.1132_1133insC	NP_002225.2:p.Glu378AlafsTer?
NM_002234.4:c.1132_1133insC MANE Select	NP_002225.2:p.Glu378AlafsTer?