Canonical Allele Identifier: CA6399730
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs777837563
ExAC: 12:5154158 T / TCCGCCACCCTCCGGCGCC
gnomAD v2: 12-5154158-T-TCCGCCACCCTCCGGCGCC
gnomAD v3: 12-5044992-T-TCCGCCACCCTCCGGCGCC
gnomAD v4: 12-5044992-T-TCCGCCACCCTCCGGCGCC
MyVariant Identifiers: chr12:g.5154158_5154159insCCGCCACCCTCCGGCGCC (hg19) chr12:g.5044992_5044993insCCGCCACCCTCCGGCGCC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044995_5045012dup , CM000674.2:g.5044995_5045012dup GRCh38
NC_000012.11:g.5154161_5154178dup , CM000674.1:g.5154161_5154178dup GRCh37
NC_000012.10:g.5024422_5024439dup NCBI36
NG_012198.1:g.6077_6094dup

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.848_865dup MANE Select ENSP00000252321.3:p.Pro288_His289insArgHi...
ENST00000252321.4:c.848_865dup ENSP00000252321.3:p.Pro288_His289insArgHi...
NM_002234.3:c.848_865dup NP_002225.2:p.Pro288_His289insArgHisProPr...
NM_002234.4:c.848_865dup MANE Select NP_002225.2:p.Pro288_His289insArgHisProPr...
Search 100 bp 5'
Search 100 bp 3'