Canonical Allele Identifier: CA913102731
Gene: GLB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33068913_33068914del , CM000665.2:g.33068913_33068914del GRCh38
NC_000003.11:g.33110405_33110406del , CM000665.1:g.33110405_33110406del GRCh37
NC_000003.10:g.33085409_33085410del NCBI36
NG_009005.1:g.33289_33290del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.302_303del MANE Select ENSP00000306920.4:p.Asp101AlafsTer2
ENST00000307363.9:c.302_303del ENSP00000306920.4:p.Asp101AlafsTer2
ENST00000307377.12:c.246-3357_246-3356del ENSP00000305920.8:n.246-3357_246-3356del
ENST00000399402.7:c.212_213del ENSP00000382333.2:p.Asp71AlafsTer2
ENST00000415454.1:c.76-10645_76-10644del ENSP00000411813.1:n.76-10645_76-10644del
ENST00000438227.1:c.76-3357_76-3356del ENSP00000401250.1:n.76-3357_76-3356del
ENST00000440656.1:c.-92_-91del ENSP00000411769.1:n.-92_-91del
ENST00000446732.5:c.156-3357_156-3356del ENSP00000407365.1:n.156-3357_156-3356del
ENST00000450835.1:c.212_213del ENSP00000403264.1:p.Asp71AlafsTer2
ENST00000464355.1:n.260_261del
ENST00000482097.5:n.109-15365_109-15364del
ENST00000485698.5:n.137-15365_137-15364del
ENST00000498537.5:n.133-15365_133-15364del
NM_000404.2:c.302_303del NP_000395.2:p.Asp101AlafsTer2
NM_000404.3:c.302_303del NP_000395.2:p.Asp101AlafsTer2
NM_001079811.1:c.212_213del NP_001073279.1:p.Asp71AlafsTer2
NM_001079811.2:c.212_213del NP_001073279.1:p.Asp71AlafsTer2
NM_001135602.1:c.246-3357_246-3356del NP_001129074.1:n.246-3357_246-3356del
NM_001135602.2:c.246-3357_246-3356del NP_001129074.1:n.246-3357_246-3356del
NM_001317040.1:c.446_447del NP_001303969.1:p.Asp149AlafsTer2
NM_000404.4:c.302_303del MANE Select NP_000395.3:p.Asp101AlafsTer2
NM_001079811.3:c.212_213del NP_001073279.2:p.Asp71AlafsTer2
NM_001135602.3:c.246-3357_246-3356del NP_001129074.2:n.246-3357_246-3356del
NM_001317040.2:c.446_447del NP_001303969.2:p.Asp149AlafsTer2
NM_001393580.1:c.302_303del NP_001380509.1:p.Asp101AlafsTer2