Canonical Allele Identifier: CA2630109267
Gene: ALPK3 HGNC NCBI

Linked Data

gnomAD v4: 15-84840271-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840272del , CM000677.2:g.84840272del GRCh38
NC_000015.9:g.85383503del , CM000677.1:g.85383503del GRCh37
NC_000015.8:g.83184507del NCBI36
NG_054748.1:g.28642del

Transcript Alleles

HGVS Amino-acid change
ENST00000258888.6:c.993del MANE Select ENSP00000258888.6:p.Glu331AspfsTer2
ENST00000258888.5:c.1599del ENSP00000258888.5:p.Glu533AspfsTer2
NM_020778.4:c.1599del NP_065829.3:p.Glu533AspfsTer2
NM_020778.5:c.993del MANE Select NP_065829.4:p.Glu331AspfsTer2
Search 100 bp 5'
Search 100 bp 3'