Canonical Allele Identifier: CA2664933103

Gene: GLB1 TMPPE

Linked Data

• gnomAD v4: 3-33097012-CGCAAGCCGCGCGTAGGGCCCAGAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33097016_33097039del , CM000665.2:g.33097016_33097039del	GRCh38
NC_000003.11:g.33138508_33138531del , CM000665.1:g.33138508_33138531del	GRCh37
NC_000003.10:g.33113512_33113535del	NCBI36
NG_009005.1:g.5167_5190del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.50_73del (GLB1) MANE Select	ENSP00000306920.4:p.Leu17_Leu24del
ENST00000342462.5:c.-426_-403del (TMPPE) MANE Select	ENSP00000343398.4:n.-426_-403del
ENST00000307363.9:c.50_73del (GLB1)	ENSP00000306920.4:p.Leu17_Leu24del
ENST00000307377.12:c.50_73del (GLB1)	ENSP00000305920.8:p.Leu17_Leu24del
ENST00000415454.1:c.50_73del (GLB1)	ENSP00000411813.1:p.Leu17_Leu24del
ENST00000436768.1:c.50_73del (GLB1)	ENSP00000387989.1:p.Leu17_Leu24del
ENST00000438227.1:c.50_73del (GLB1)	ENSP00000401250.1:p.Leu17_Leu24del
ENST00000440656.1:c.-174_-151del (GLB1)	ENSP00000411769.1:n.-174_-151del
ENST00000464355.1:n.8_31del (GLB1)
ENST00000482097.5:n.83_106del (GLB1)
ENST00000485698.5:n.111_134del (GLB1)
ENST00000498537.5:n.107_130del (GLB1)
NM_000404.2:c.50_73del (GLB1)	NP_000395.2:p.Leu17_Leu24del
NM_000404.3:c.50_73del (GLB1)	NP_000395.2:p.Leu17_Leu24del
NM_001135602.1:c.50_73del (GLB1)	NP_001129074.1:p.Leu17_Leu24del
NM_001135602.2:c.50_73del (GLB1)	NP_001129074.1:p.Leu17_Leu24del
NM_001317040.1:c.50_73del (GLB1)	NP_001303969.1:p.Leu17_Leu24del
NM_000404.4:c.50_73del (GLB1) MANE Select	NP_000395.3:p.Leu17_Leu24del
NM_001039770.3:c.-426_-403del (TMPPE) MANE Select	NP_001034859.2:n.-426_-403del
NM_001136238.2:c.-322_-299del (TMPPE)	NP_001129710.1:n.-322_-299del
NM_001135602.3:c.50_73del (GLB1)	NP_001129074.2:p.Leu17_Leu24del
NM_001317040.2:c.50_73del (GLB1)	NP_001303969.2:p.Leu17_Leu24del
NM_001393580.1:c.50_73del (GLB1)	NP_001380509.1:p.Leu17_Leu24del