Canonical Allele Identifier: CA891843340
Gene: GLB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33051979_33051980delinsAG , CM000665.2:g.33051979_33051980delinsAG GRCh38
NC_000003.11:g.33093471_33093472delinsAG , CM000665.1:g.33093471_33093472delinsAG GRCh37
NC_000003.10:g.33068475_33068476delinsAG NCBI36
NG_009005.1:g.50223_50224delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.817_818delinsCT MANE Select ENSP00000306920.4:p.Trp273Leu
ENST00000307363.9:c.817_818delinsCT ENSP00000306920.4:p.Trp273Leu
ENST00000307377.12:c.424_425delinsCT ENSP00000305920.8:p.Trp142Leu
ENST00000399402.7:c.727_728delinsCT ENSP00000382333.2:p.Trp243Leu
ENST00000415454.1:c.340_341delinsCT ENSP00000411813.1:p.Trp114Leu
ENST00000438227.1:c.*309_*310delinsCT ENSP00000401250.1:n.*309_*310delinsCT
ENST00000446732.5:c.*260_*261delinsCT ENSP00000407365.1:n.*260_*261delinsCT
ENST00000482097.5:n.192_193delinsCT
ENST00000485698.5:n.220_221delinsCT
ENST00000498537.5:n.343_344delinsCT
NM_000404.2:c.817_818delinsCT NP_000395.2:p.Trp273Leu
NM_000404.3:c.817_818delinsCT NP_000395.2:p.Trp273Leu
NM_001079811.1:c.727_728delinsCT NP_001073279.1:p.Trp243Leu
NM_001079811.2:c.727_728delinsCT NP_001073279.1:p.Trp243Leu
NM_001135602.1:c.424_425delinsCT NP_001129074.1:p.Trp142Leu
NM_001135602.2:c.424_425delinsCT NP_001129074.1:p.Trp142Leu
NM_001317040.1:c.961_962delinsCT NP_001303969.1:p.Trp321Leu
NM_000404.4:c.817_818delinsCT MANE Select NP_000395.3:p.Trp273Leu
NM_001079811.3:c.727_728delinsCT NP_001073279.2:p.Trp243Leu
NM_001135602.3:c.424_425delinsCT NP_001129074.2:p.Trp142Leu
NM_001317040.2:c.961_962delinsCT NP_001303969.2:p.Trp321Leu
NM_001393580.1:c.817_818delinsCT NP_001380509.1:p.Trp273Leu