Canonical Allele Identifier: CA2690969716
Gene: ALG2 HGNC NCBI

Linked Data

gnomAD v4: 9-99221607-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221611del , CM000671.2:g.99221611del GRCh38
NC_000009.11:g.101983893del , CM000671.1:g.101983893del GRCh37
NC_000009.10:g.101023714del NCBI36
NG_008928.1:g.5357del

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.287del MANE Select ENSP00000417764.1:p.Phe96SerfsTer17
ENST00000238477.5:c.287del ENSP00000432675.2:p.Phe96SerfsTer17
ENST00000476832.1:c.287del ENSP00000417764.1:p.Phe96SerfsTer17
NM_033087.3:c.287del NP_149078.1:p.Phe96SerfsTer17
NR_024532.1:n.357del
NM_033087.4:c.287del MANE Select NP_149078.1:p.Phe96SerfsTer17
NR_024532.2:n.335del
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