Canonical Allele Identifier: CA1355976884
Gene: GLB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.32997068_32997072delinsCTTTG , CM000665.2:g.32997068_32997072delinsCTTTG GRCh38
NC_000003.11:g.33038560_33038564delinsCTTTG , CM000665.1:g.33038560_33038564delinsCTTTG GRCh37
NC_000003.10:g.33013564_33013568delinsCTTTG NCBI36
NG_009005.1:g.105131_105135delinsCAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.2007_2011delinsCAAAG MANE Select ENSP00000306920.4:p.Asn669=
ENST00000307363.9:c.2007_2011delinsCAAAG ENSP00000306920.4:p.Asn669=
ENST00000307377.12:c.1614_1618delinsCAAAG ENSP00000305920.8:p.Asn538=
ENST00000399402.7:c.1917_1921delinsCAAAG ENSP00000382333.2:p.Asn639=
NM_000404.2:c.2007_2011delinsCAAAG NP_000395.2:p.Asn669=
NM_000404.3:c.2007_2011delinsCAAAG NP_000395.2:p.Asn669=
NM_001079811.1:c.1917_1921delinsCAAAG NP_001073279.1:p.Asn639=
NM_001079811.2:c.1917_1921delinsCAAAG NP_001073279.1:p.Asn639=
NM_001135602.1:c.1614_1618delinsCAAAG NP_001129074.1:p.Asn538=
NM_001135602.2:c.1614_1618delinsCAAAG NP_001129074.1:p.Asn538=
NM_001317040.1:c.2151_2155delinsCAAAG NP_001303969.1:p.Asn717=
NM_000404.4:c.2007_2011delinsCAAAG MANE Select NP_000395.3:p.Asn669=
NM_001079811.3:c.1917_1921delinsCAAAG NP_001073279.2:p.Asn639=
NM_001135602.3:c.1614_1618delinsCAAAG NP_001129074.2:p.Asn538=
NM_001317040.2:c.2151_2155delinsCAAAG NP_001303969.2:p.Asn717=
NM_001393580.1:c.1734+16984_1734+16988delinsCAAAG NP_001380509.1:n.1734+16984_1734+16988delinsCAAAG