Canonical Allele Identifier: CA2664926659

Gene: GLB1

Linked Data

• gnomAD v4: 3-32997213-C-CTCCAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997219_32997224dup , CM000665.2:g.32997219_32997224dup	GRCh38
NC_000003.11:g.33038711_33038716dup , CM000665.1:g.33038711_33038716dup	GRCh37
NC_000003.10:g.33013715_33013720dup	NCBI36
NG_009005.1:g.104984_104989dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.1860_1865dup MANE Select	ENSP00000306920.4:p.Glu622_Trp623insLeuGl...
ENST00000307363.9:c.1860_1865dup	ENSP00000306920.4:p.Glu622_Trp623insLeuGl...
ENST00000307377.12:c.1467_1472dup	ENSP00000305920.8:p.Glu491_Trp492insLeuGl...
ENST00000399402.7:c.1770_1775dup	ENSP00000382333.2:p.Glu592_Trp593insLeuGl...
NM_000404.2:c.1860_1865dup	NP_000395.2:p.Glu622_Trp623insLeuGlu
NM_000404.3:c.1860_1865dup	NP_000395.2:p.Glu622_Trp623insLeuGlu
NM_001079811.1:c.1770_1775dup	NP_001073279.1:p.Glu592_Trp593insLeuGlu
NM_001079811.2:c.1770_1775dup	NP_001073279.1:p.Glu592_Trp593insLeuGlu
NM_001135602.1:c.1467_1472dup	NP_001129074.1:p.Glu491_Trp492insLeuGlu
NM_001135602.2:c.1467_1472dup	NP_001129074.1:p.Glu491_Trp492insLeuGlu
NM_001317040.1:c.2004_2009dup	NP_001303969.1:p.Glu670_Trp671insLeuGlu
NM_000404.4:c.1860_1865dup MANE Select	NP_000395.3:p.Glu622_Trp623insLeuGlu
NM_001079811.3:c.1770_1775dup	NP_001073279.2:p.Glu592_Trp593insLeuGlu
NM_001135602.3:c.1467_1472dup	NP_001129074.2:p.Glu491_Trp492insLeuGlu
NM_001317040.2:c.2004_2009dup	NP_001303969.2:p.Glu670_Trp671insLeuGlu
NM_001393580.1:c.1734+16837_1734+16842dup	NP_001380509.1:n.1734+16837_1734+16842dup...