Canonical Allele Identifier: CA2664926661

Gene: GLB1

Linked Data

• gnomAD v4: 3-32997309-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997310del , CM000665.2:g.32997310del	GRCh38
NC_000003.11:g.33038802del , CM000665.1:g.33038802del	GRCh37
NC_000003.10:g.33013806del	NCBI36
NG_009005.1:g.104893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1769del MANE Select	ENSP00000306920.4:p.Arg590ProfsTer10
ENST00000307363.9:c.1769del	ENSP00000306920.4:p.Arg590ProfsTer10
ENST00000307377.12:c.1376del	ENSP00000305920.8:p.Arg459ProfsTer10
ENST00000399402.7:c.1679del	ENSP00000382333.2:p.Arg560ProfsTer10
NM_000404.2:c.1769del	NP_000395.2:p.Arg590ProfsTer10
NM_000404.3:c.1769del	NP_000395.2:p.Arg590ProfsTer10
NM_001079811.1:c.1679del	NP_001073279.1:p.Arg560ProfsTer10
NM_001079811.2:c.1679del	NP_001073279.1:p.Arg560ProfsTer10
NM_001135602.1:c.1376del	NP_001129074.1:p.Arg459ProfsTer10
NM_001135602.2:c.1376del	NP_001129074.1:p.Arg459ProfsTer10
NM_001317040.1:c.1913del	NP_001303969.1:p.Arg638ProfsTer10
NM_000404.4:c.1769del MANE Select	NP_000395.3:p.Arg590ProfsTer10
NM_001079811.3:c.1679del	NP_001073279.2:p.Arg560ProfsTer10
NM_001135602.3:c.1376del	NP_001129074.2:p.Arg459ProfsTer10
NM_001317040.2:c.1913del	NP_001303969.2:p.Arg638ProfsTer10
NM_001393580.1:c.1734+16746del	NP_001380509.1:n.1734+16746del