Canonical Allele Identifier: CA2630109275
Gene: ALPK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840608_84840609del , CM000677.2:g.84840608_84840609del GRCh38
NC_000015.9:g.85383839_85383840del , CM000677.1:g.85383839_85383840del GRCh37
NC_000015.8:g.83184843_83184844del NCBI36
NG_054748.1:g.28978_28979del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1329_1330del MANE Select ENSP00000258888.6:p.Pro446GlnfsTer9
ENST00000258888.5:c.1935_1936del ENSP00000258888.5:p.Pro648GlnfsTer9
NM_020778.4:c.1935_1936del NP_065829.3:p.Pro648GlnfsTer9
NM_020778.5:c.1329_1330del MANE Select NP_065829.4:p.Pro446GlnfsTer9