Canonical Allele Identifier: CA906337923

Gene: GLB1

Linked Data

• dbSNP Id: rs1213497683
• gnomAD v4: 3-32997176-CA-C
• MyVariant Identifiers: chr3:g.33038669del (hg19) ; chr3:g.32997177del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997177del , CM000665.2:g.32997177del	GRCh38
NC_000003.11:g.33038669del , CM000665.1:g.33038669del	GRCh37
NC_000003.10:g.33013673del	NCBI36
NG_009005.1:g.105026del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1902del MANE Select	ENSP00000306920.4:p.Cys634TrpfsTer3
ENST00000307363.9:c.1902del	ENSP00000306920.4:p.Cys634TrpfsTer3
ENST00000307377.12:c.1509del	ENSP00000305920.8:p.Cys503TrpfsTer3
ENST00000399402.7:c.1812del	ENSP00000382333.2:p.Cys604TrpfsTer3
NM_000404.2:c.1902del	NP_000395.2:p.Cys634TrpfsTer3
NM_000404.3:c.1902del	NP_000395.2:p.Cys634TrpfsTer3
NM_001079811.1:c.1812del	NP_001073279.1:p.Cys604TrpfsTer3
NM_001079811.2:c.1812del	NP_001073279.1:p.Cys604TrpfsTer3
NM_001135602.1:c.1509del	NP_001129074.1:p.Cys503TrpfsTer3
NM_001135602.2:c.1509del	NP_001129074.1:p.Cys503TrpfsTer3
NM_001317040.1:c.2046del	NP_001303969.1:p.Cys682TrpfsTer3
NM_000404.4:c.1902del MANE Select	NP_000395.3:p.Cys634TrpfsTer3
NM_001079811.3:c.1812del	NP_001073279.2:p.Cys604TrpfsTer3
NM_001135602.3:c.1509del	NP_001129074.2:p.Cys503TrpfsTer3
NM_001317040.2:c.2046del	NP_001303969.2:p.Cys682TrpfsTer3
NM_001393580.1:c.1734+16879del	NP_001380509.1:n.1734+16879del