Canonical Allele Identifier: CA2630109272
Gene: ALPK3 HGNC NCBI

Linked Data

gnomAD v4: 15-84840538-TGGAGAACACCCAGGCA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840540_84840555del , CM000677.2:g.84840540_84840555del GRCh38
NC_000015.9:g.85383771_85383786del , CM000677.1:g.85383771_85383786del GRCh37
NC_000015.8:g.83184775_83184790del NCBI36
NG_054748.1:g.28910_28925del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1261_1276del MANE Select ENSP00000258888.6:p.Glu421SerfsTer12
ENST00000258888.5:c.1867_1882del ENSP00000258888.5:p.Glu623SerfsTer12
NM_020778.4:c.1867_1882del NP_065829.3:p.Glu623SerfsTer12
NM_020778.5:c.1261_1276del MANE Select NP_065829.4:p.Glu421SerfsTer12
Search 100 bp 5'
Search 100 bp 3'