Canonical Allele Identifier: CA7709182

Gene: ALPK3

Linked Data

• ClinVar Variation Id: 427757
• ClinVar RCV Id: RCV000490678 ; RCV001856924 ; RCV002420255
• 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

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