Canonical Allele Identifier: CA7709182
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 427757
ClinVar RCV Id: RCV000490678 RCV001856924
dbSNP Id: rs769139957
ExAC: 15:85383921 AC / A
gnomAD v2: 15-85383921-AC-A
gnomAD v3: 15-84840690-AC-A
gnomAD v4: 15-84840690-AC-A
COSMIC: COSM1375078 COSM1375079
MyVariant Identifiers: chr15:g.85383927del (hg19) chr15:g.85383922del (hg19) chr15:g.84840696del (hg38) chr15:g.84840691del (hg38)
PubMed: PMID:28630369
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840696del , CM000677.2:g.84840696del GRCh38
NC_000015.9:g.85383927del , CM000677.1:g.85383927del GRCh37
NC_000015.8:g.83184931del NCBI36
NG_054748.1:g.29066del

Transcript Alleles

HGVS Amino-acid change
ENST00000258888.6:c.1417del MANE Select ENSP00000258888.6:p.Gln473SerfsTer30
ENST00000258888.5:c.2023del ENSP00000258888.5:p.Gln675SerfsTer30
NM_020778.4:c.2023del NP_065829.3:p.Gln675SerfsTer30
NM_020778.5:c.1417del MANE Select NP_065829.4:p.Gln473SerfsTer30
Search 100 bp 5'
Search 100 bp 3'