Canonical Allele Identifier: CA2573050767
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1805250
ClinVar RCV Id: RCV002471668
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840382_84840392del , CM000677.2:g.84840382_84840392del GRCh38
NC_000015.9:g.85383613_85383623del , CM000677.1:g.85383613_85383623del GRCh37
NC_000015.8:g.83184617_83184627del NCBI36
NG_054748.1:g.28752_28762del

Transcript Alleles

HGVS Amino-acid change
ENST00000258888.6:c.1103_1113del MANE Select ENSP00000258888.6:p.Thr368ArgfsTer14
ENST00000258888.5:c.1709_1719del ENSP00000258888.5:p.Thr570ArgfsTer14
NM_020778.4:c.1709_1719del NP_065829.3:p.Thr570ArgfsTer14
NM_020778.5:c.1103_1113del MANE Select NP_065829.4:p.Thr368ArgfsTer14
Search 100 bp 5'
Search 100 bp 3'