Canonical Allele Identifier: CA114648
Gene: GLB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33068940_33068962dup , CM000665.2:g.33068940_33068962dup GRCh38
NC_000003.11:g.33110432_33110454dup , CM000665.1:g.33110432_33110454dup GRCh37
NC_000003.10:g.33085436_33085458dup NCBI36
NG_009005.1:g.33243_33265dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.256_278dup MANE Select ENSP00000306920.4:p.Gln95ThrfsTer34
ENST00000307363.9:c.256_278dup ENSP00000306920.4:p.Gln95ThrfsTer34
ENST00000307377.12:c.246-3403_246-3381dup ENSP00000305920.8:n.246-3403_246-3381dup
ENST00000399402.7:c.166_188dup ENSP00000382333.2:p.Gln65ThrfsTer34
ENST00000415454.1:c.76-10691_76-10669dup ENSP00000411813.1:n.76-10691_76-10669dup
ENST00000436768.1:c.400_422dup ENSP00000387989.1:p.Gln143ThrfsTer?
ENST00000438227.1:c.76-3403_76-3381dup ENSP00000401250.1:n.76-3403_76-3381dup
ENST00000440656.1:c.-138_-116dup ENSP00000411769.1:n.-138_-116dup
ENST00000446732.5:c.156-3403_156-3381dup ENSP00000407365.1:n.156-3403_156-3381dup
ENST00000450835.1:c.166_188dup ENSP00000403264.1:p.Gln65ThrfsTer34
ENST00000464355.1:n.214_236dup
ENST00000482097.5:n.109-15411_109-15389dup
ENST00000485698.5:n.137-15411_137-15389dup
ENST00000498537.5:n.133-15411_133-15389dup
NM_000404.2:c.256_278dup NP_000395.2:p.Gln95ThrfsTer34
NM_000404.3:c.256_278dup NP_000395.2:p.Gln95ThrfsTer34
NM_001079811.1:c.166_188dup NP_001073279.1:p.Gln65ThrfsTer34
NM_001079811.2:c.166_188dup NP_001073279.1:p.Gln65ThrfsTer34
NM_001135602.1:c.246-3403_246-3381dup NP_001129074.1:n.246-3403_246-3381dup
NM_001135602.2:c.246-3403_246-3381dup NP_001129074.1:n.246-3403_246-3381dup
NM_001317040.1:c.400_422dup NP_001303969.1:p.Gln143ThrfsTer34
NM_000404.4:c.256_278dup MANE Select NP_000395.3:p.Gln95ThrfsTer34
NM_001079811.3:c.166_188dup NP_001073279.2:p.Gln65ThrfsTer34
NM_001135602.3:c.246-3403_246-3381dup NP_001129074.2:n.246-3403_246-3381dup
NM_001317040.2:c.400_422dup NP_001303969.2:p.Gln143ThrfsTer34
NM_001393580.1:c.256_278dup NP_001380509.1:p.Gln95ThrfsTer34