Canonical Allele Identifier: CA2690969718
Gene: ALG2 HGNC NCBI

Linked Data

gnomAD v4: 9-99221655-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221658del , CM000671.2:g.99221658del GRCh38
NC_000009.11:g.101983940del , CM000671.1:g.101983940del GRCh37
NC_000009.10:g.101023761del NCBI36
NG_008928.1:g.5309del

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.239del MANE Select ENSP00000417764.1:p.Gly80AlafsTer?
ENST00000238477.5:c.239del ENSP00000432675.2:p.Gly80AlafsTer?
ENST00000476832.1:c.239del ENSP00000417764.1:p.Gly80AlafsTer?
NM_033087.3:c.239del NP_149078.1:p.Gly80AlafsTer?
NR_024532.1:n.309del
NM_033087.4:c.239del MANE Select NP_149078.1:p.Gly80AlafsTer?
NR_024532.2:n.287del
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