Canonical Allele Identifier: CA2664927797

Gene: GLB1

Linked Data

• gnomAD v4: 3-33068838-GATGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33068840_33068843del , CM000665.2:g.33068840_33068843del	GRCh38
NC_000003.11:g.33110332_33110335del , CM000665.1:g.33110332_33110335del	GRCh37
NC_000003.10:g.33085336_33085339del	NCBI36
NG_009005.1:g.33361_33364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.374_377del MANE Select	ENSP00000306920.4:p.Tyr125SerfsTer15
ENST00000307363.9:c.374_377del	ENSP00000306920.4:p.Tyr125SerfsTer15
ENST00000307377.12:c.246-3285_246-3282del	ENSP00000305920.8:n.246-3285_246-3282del
ENST00000399402.7:c.284_287del	ENSP00000382333.2:p.Tyr95SerfsTer15
ENST00000415454.1:c.76-10573_76-10570del	ENSP00000411813.1:n.76-10573_76-10570del
ENST00000438227.1:c.76-3285_76-3282del	ENSP00000401250.1:n.76-3285_76-3282del
ENST00000440656.1:c.-20_-17del	ENSP00000411769.1:n.-20_-17del
ENST00000446732.5:c.156-3285_156-3282del	ENSP00000407365.1:n.156-3285_156-3282del
ENST00000450835.1:c.284_287del	ENSP00000403264.1:p.Tyr95SerfsTer?
ENST00000464355.1:n.332_335del
ENST00000482097.5:n.109-15293_109-15290del
ENST00000485698.5:n.137-15293_137-15290del
ENST00000498537.5:n.133-15293_133-15290del
NM_000404.2:c.374_377del	NP_000395.2:p.Tyr125SerfsTer15
NM_000404.3:c.374_377del	NP_000395.2:p.Tyr125SerfsTer15
NM_001079811.1:c.284_287del	NP_001073279.1:p.Tyr95SerfsTer15
NM_001079811.2:c.284_287del	NP_001073279.1:p.Tyr95SerfsTer15
NM_001135602.1:c.246-3285_246-3282del	NP_001129074.1:n.246-3285_246-3282del
NM_001135602.2:c.246-3285_246-3282del	NP_001129074.1:n.246-3285_246-3282del
NM_001317040.1:c.518_521del	NP_001303969.1:p.Tyr173SerfsTer15
NM_000404.4:c.374_377del MANE Select	NP_000395.3:p.Tyr125SerfsTer15
NM_001079811.3:c.284_287del	NP_001073279.2:p.Tyr95SerfsTer15
NM_001135602.3:c.246-3285_246-3282del	NP_001129074.2:n.246-3285_246-3282del
NM_001317040.2:c.518_521del	NP_001303969.2:p.Tyr173SerfsTer15
NM_001393580.1:c.374_377del	NP_001380509.1:p.Tyr125SerfsTer15