Canonical Allele Identifier: CA1356021393

Gene: GLB1 TMPPE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33097009_33097021delinsACGCGCAAGCCGC , CM000665.2:g.33097009_33097021delinsACGCGCAAGCCGC	GRCh38
NC_000003.11:g.33138501_33138513delinsACGCGCAAGCCGC , CM000665.1:g.33138501_33138513delinsACGCGCAAGCCGC	GRCh37
NC_000003.10:g.33113505_33113517delinsACGCGCAAGCCGC	NCBI36
NG_009005.1:g.5182_5194delinsGCGGCTTGCGCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.65_75+2delinsGCGGCTTGCGCGT (GLB1)
ENST00000342462.5:c.-411_-399delinsGCGGCTTGCGCGT (TMPPE) MANE Select	ENSP00000343398.4:n.-411_-399delinsGCGGCTTGCGCGT
ENST00000307363.9:c.65_75+2delinsGCGGCTTGCGCGT (GLB1)
ENST00000307377.12:c.65_75+2delinsGCGGCTTGCGCGT (GLB1)
ENST00000415454.1:c.65_75+2delinsGCGGCTTGCGCGT (GLB1)
ENST00000436768.1:c.65_75+2delinsGCGGCTTGCGCGT (GLB1)
ENST00000438227.1:c.65_75+2delinsGCGGCTTGCGCGT (GLB1)
ENST00000440656.1:c.-159_-149+2delinsGCGGCTTGCGCGT (GLB1)
ENST00000464355.1:n.23_33+2delinsGCGGCTTGCGCGT (GLB1)
ENST00000482097.5:n.98_108+2delinsGCGGCTTGCGCGT (GLB1)
ENST00000485698.5:n.126_136+2delinsGCGGCTTGCGCGT (GLB1)
ENST00000498537.5:n.122_132+2delinsGCGGCTTGCGCGT (GLB1)
NM_000404.2:c.65_75+2delinsGCGGCTTGCGCGT (GLB1)
NM_000404.3:c.65_75+2delinsGCGGCTTGCGCGT (GLB1)
NM_001135602.1:c.65_75+2delinsGCGGCTTGCGCGT (GLB1)
NM_001135602.2:c.65_75+2delinsGCGGCTTGCGCGT (GLB1)
NM_001317040.1:c.65_75+2delinsGCGGCTTGCGCGT (GLB1)
NM_000404.4:c.65_75+2delinsGCGGCTTGCGCGT (GLB1)
NM_001039770.3:c.-411_-399delinsGCGGCTTGCGCGT (TMPPE) MANE Select	NP_001034859.2:n.-411_-399delinsGCGGCTTGCGCGT
NM_001136238.2:c.-307_-295delinsGCGGCTTGCGCGT (TMPPE)	NP_001129710.1:n.-307_-295delinsGCGGCTTGCGCGT
NM_001135602.3:c.65_75+2delinsGCGGCTTGCGCGT (GLB1)
NM_001317040.2:c.65_75+2delinsGCGGCTTGCGCGT (GLB1)
NM_001393580.1:c.65_75+2delinsGCGGCTTGCGCGT (GLB1)