Canonical Allele Identifier: CA6399554

Gene: KCNA5

Linked Data

• dbSNP Id: rs761285818
• ExAC: 12:5153489 ACGCGGACTCGGGAGTG / A
• gnomAD v4: 12-5044323-ACGCGGACTCGGGAGTG-A
• MyVariant Identifiers: chr12:g.5153490_5153505del (hg19) ; chr12:g.5044324_5044339del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044326_5044341del , CM000674.2:g.5044326_5044341del	GRCh38
NC_000012.11:g.5153492_5153507del , CM000674.1:g.5153492_5153507del	GRCh37
NC_000012.10:g.5023753_5023768del	NCBI36
NG_012198.1:g.5408_5423del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.179_194del MANE Select	ENSP00000252321.3:p.Ala60GlyfsTer?
ENST00000252321.4:c.179_194del	ENSP00000252321.3:p.Ala60GlyfsTer?
NM_002234.3:c.179_194del	NP_002225.2:p.Ala60GlyfsTer?
NM_002234.4:c.179_194del MANE Select	NP_002225.2:p.Ala60GlyfsTer?