Canonical Allele Identifier: CA542177274

Gene: GLB1

Linked Data

• ClinVar Variation Id: 928700
• ClinVar RCV Id: RCV001192991 ; RCV001268285 ; RCV001859167
• dbSNP Id: rs1452318343
• gnomAD v2: 3-33099614-GC-G
• gnomAD v3: 3-33058122-GC-G
• gnomAD v4: 3-33058122-GC-G
• MyVariant Identifiers: chr3:g.33099615del (hg19) ; chr3:g.33058123del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33058123del , CM000665.2:g.33058123del	GRCh38
NC_000003.11:g.33099615del , CM000665.1:g.33099615del	GRCh37
NC_000003.10:g.33074619del	NCBI36
NG_009005.1:g.44080del

Transcript Alleles

HGVS	Amino-acid change
ENST00000307363.10:c.699del MANE Select	ENSP00000306920.4:p.Gln234ArgfsTer20
ENST00000307363.9:c.699del	ENSP00000306920.4:p.Gln234ArgfsTer20
ENST00000307377.12:c.341-4574del	ENSP00000305920.8:n.341-4574del
ENST00000399402.7:c.609del	ENSP00000382333.2:p.Gln204ArgfsTer20
ENST00000415454.1:c.222del	ENSP00000411813.1:p.Gln75ArgfsTer20
ENST00000438227.1:c.*191del	ENSP00000401250.1:n.*191del
ENST00000440656.1:c.306del	ENSP00000411769.1:p.Gln103ArgfsTer?
ENST00000446732.5:c.*142del	ENSP00000407365.1:n.*142del
ENST00000482097.5:n.109-4574del
ENST00000485698.5:n.137-4574del
ENST00000498537.5:n.133-4574del
NM_000404.2:c.699del	NP_000395.2:p.Gln234ArgfsTer20
NM_000404.3:c.699del	NP_000395.2:p.Gln234ArgfsTer20
NM_001079811.1:c.609del	NP_001073279.1:p.Gln204ArgfsTer20
NM_001079811.2:c.609del	NP_001073279.1:p.Gln204ArgfsTer20
NM_001135602.1:c.341-4574del	NP_001129074.1:n.341-4574del
NM_001135602.2:c.341-4574del	NP_001129074.1:n.341-4574del
NM_001317040.1:c.843del	NP_001303969.1:p.Gln282ArgfsTer20
NM_000404.4:c.699del MANE Select	NP_000395.3:p.Gln234ArgfsTer20
NM_001079811.3:c.609del	NP_001073279.2:p.Gln204ArgfsTer20
NM_001135602.3:c.341-4574del	NP_001129074.2:n.341-4574del
NM_001317040.2:c.843del	NP_001303969.2:p.Gln282ArgfsTer20
NM_001393580.1:c.699del	NP_001380509.1:p.Gln234ArgfsTer20