Canonical Allele Identifier: CA658822678
Community Standard Title: NM_000404.4(GLB1):c.425_426del (p.Lys142ArgfsTer?)
Gene: GLB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33068262_33068263del , CM000665.2:g.33068262_33068263del GRCh38
NC_000003.11:g.33109754_33109755del , CM000665.1:g.33109754_33109755del GRCh37
NC_000003.10:g.33084758_33084759del NCBI36
NG_009005.1:g.33941_33942del

Transcript Alleles

HGVS Amino-acid Change
NM_000404.4:c.425_426del MANE Select NP_000395.3:p.Lys142ArgfsTer?
ENST00000307363.10:c.425_426del MANE Select ENSP00000306920.4:p.Lys142ArgfsTer?
NM_000404.2:c.425_426del NP_000395.2:p.Lys142ArgfsTer?
NM_000404.3:c.425_426del NP_000395.2:p.Lys142ArgfsTer?
NM_001079811.1:c.335_336del NP_001073279.1:p.Lys112ArgfsTer?
NM_001079811.2:c.335_336del NP_001073279.1:p.Lys112ArgfsTer?
NM_001079811.3:c.335_336del NP_001073279.2:p.Lys112ArgfsTer?
NM_001135602.1:c.246-2705_246-2704del NP_001129074.1:n.246-2705_246-2704del
NM_001135602.2:c.246-2705_246-2704del NP_001129074.1:n.246-2705_246-2704del
NM_001135602.3:c.246-2705_246-2704del NP_001129074.2:n.246-2705_246-2704del
NM_001317040.1:c.569_570del NP_001303969.1:p.Lys190ArgfsTer?
NM_001317040.2:c.569_570del NP_001303969.2:p.Lys190ArgfsTer?
NM_001393580.1:c.425_426del NP_001380509.1:p.Lys142ArgfsTer?
ENST00000307363.9:c.425_426del ENSP00000306920.4:p.Lys142ArgfsTer?
ENST00000307377.12:c.246-2705_246-2704del ENSP00000305920.8:n.246-2705_246-2704del
ENST00000399402.7:c.335_336del ENSP00000382333.2:p.Lys112ArgfsTer?
ENST00000415454.1:c.76-9993_76-9992del ENSP00000411813.1:n.76-9993_76-9992del
ENST00000438227.1:c.76-2705_76-2704del ENSP00000401250.1:n.76-2705_76-2704del
ENST00000440656.1:c.32_33del ENSP00000411769.1:p.Lys11ArgfsTer?
ENST00000446732.5:c.156-2705_156-2704del ENSP00000407365.1:n.156-2705_156-2704del
ENST00000464355.1:n.383_384del
ENST00000482097.5:n.109-14713_109-14712del
ENST00000485698.5:n.137-14713_137-14712del
ENST00000498537.5:n.133-14713_133-14712del