Canonical Allele Identifier: CA6399554
Gene: KCNA5 HGNC NCBI

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)
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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?
Search 100 bp 5'
Search 100 bp 3'