Canonical Allele Identifier: CA1139661089
Gene: ALG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 915335
ClinVar RCV Id: RCV001169926
dbSNP Id: rs1828806280
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221671_99221678del , CM000671.2:g.99221671_99221678del GRCh38
NC_000009.11:g.101983953_101983960del , CM000671.1:g.101983953_101983960del GRCh37
NC_000009.10:g.101023774_101023781del NCBI36
NG_008928.1:g.5288_5295del

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.218_225del MANE Select ENSP00000417764.1:p.Asp73AlafsTer?
ENST00000238477.5:c.218_225del ENSP00000432675.2:p.Asp73AlafsTer?
ENST00000476832.1:c.218_225del ENSP00000417764.1:p.Asp73AlafsTer?
NM_033087.3:c.218_225del NP_149078.1:p.Asp73AlafsTer?
NR_024532.1:n.288_295del
NM_033087.4:c.218_225del MANE Select NP_149078.1:p.Asp73AlafsTer?
NR_024532.2:n.266_273del
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