Canonical Allele Identifier: CA2573136201

Gene: GLB1

Linked Data

• ClinVar Variation Id: 1473458
• ClinVar RCV Id: RCV002005262
• dbSNP Id: rs759633494
• gnomAD v4: 3-32997072-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997079del , CM000665.2:g.32997079del	GRCh38
NC_000003.11:g.33038571del , CM000665.1:g.33038571del	GRCh37
NC_000003.10:g.33013575del	NCBI36
NG_009005.1:g.105130del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.2006del MANE Select	ENSP00000306920.4:p.Asn669ThrfsTer17
ENST00000307363.9:c.2006del	ENSP00000306920.4:p.Asn669ThrfsTer17
ENST00000307377.12:c.1613del	ENSP00000305920.8:p.Asn538ThrfsTer17
ENST00000399402.7:c.1916del	ENSP00000382333.2:p.Asn639ThrfsTer17
NM_000404.2:c.2006del	NP_000395.2:p.Asn669ThrfsTer17
NM_000404.3:c.2006del	NP_000395.2:p.Asn669ThrfsTer17
NM_001079811.1:c.1916del	NP_001073279.1:p.Asn639ThrfsTer17
NM_001079811.2:c.1916del	NP_001073279.1:p.Asn639ThrfsTer17
NM_001135602.1:c.1613del	NP_001129074.1:p.Asn538ThrfsTer17
NM_001135602.2:c.1613del	NP_001129074.1:p.Asn538ThrfsTer17
NM_001317040.1:c.2150del	NP_001303969.1:p.Asn717ThrfsTer17
NM_000404.4:c.2006del MANE Select	NP_000395.3:p.Asn669ThrfsTer17
NM_001079811.3:c.1916del	NP_001073279.2:p.Asn639ThrfsTer17
NM_001135602.3:c.1613del	NP_001129074.2:p.Asn538ThrfsTer17
NM_001317040.2:c.2150del	NP_001303969.2:p.Asn717ThrfsTer17
NM_001393580.1:c.1734+16983del	NP_001380509.1:n.1734+16983del