Canonical Allele Identifier: CA2580090121
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1777493
ClinVar RCV Id: RCV002403832
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840334dup , CM000677.2:g.84840334dup GRCh38
NC_000015.9:g.85383565dup , CM000677.1:g.85383565dup GRCh37
NC_000015.8:g.83184569dup NCBI36
NG_054748.1:g.28704dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1055dup MANE Select ENSP00000258888.6:p.Asp353Ter
ENST00000258888.5:c.1661dup ENSP00000258888.5:p.Asp555Ter
NM_020778.4:c.1661dup NP_065829.3:p.Asp555Ter
NM_020778.5:c.1055dup MANE Select NP_065829.4:p.Asp353Ter
Search 100 bp 5'
Search 100 bp 3'