Canonical Allele Identifier: CA2664926658

Gene: GLB1

Linked Data

• gnomAD v4: 3-32997202-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997203del , CM000665.2:g.32997203del	GRCh38
NC_000003.11:g.33038695del , CM000665.1:g.33038695del	GRCh37
NC_000003.10:g.33013699del	NCBI36
NG_009005.1:g.105000del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1876del MANE Select	ENSP00000306920.4:p.Cys626AlafsTer11
ENST00000307363.9:c.1876del	ENSP00000306920.4:p.Cys626AlafsTer11
ENST00000307377.12:c.1483del	ENSP00000305920.8:p.Cys495AlafsTer11
ENST00000399402.7:c.1786del	ENSP00000382333.2:p.Cys596AlafsTer11
NM_000404.2:c.1876del	NP_000395.2:p.Cys626AlafsTer11
NM_000404.3:c.1876del	NP_000395.2:p.Cys626AlafsTer11
NM_001079811.1:c.1786del	NP_001073279.1:p.Cys596AlafsTer11
NM_001079811.2:c.1786del	NP_001073279.1:p.Cys596AlafsTer11
NM_001135602.1:c.1483del	NP_001129074.1:p.Cys495AlafsTer11
NM_001135602.2:c.1483del	NP_001129074.1:p.Cys495AlafsTer11
NM_001317040.1:c.2020del	NP_001303969.1:p.Cys674AlafsTer11
NM_000404.4:c.1876del MANE Select	NP_000395.3:p.Cys626AlafsTer11
NM_001079811.3:c.1786del	NP_001073279.2:p.Cys596AlafsTer11
NM_001135602.3:c.1483del	NP_001129074.2:p.Cys495AlafsTer11
NM_001317040.2:c.2020del	NP_001303969.2:p.Cys674AlafsTer11
NM_001393580.1:c.1734+16853del	NP_001380509.1:n.1734+16853del