Canonical Allele Identifier: CA1046623343

Gene: GLB1

Linked Data

• gnomAD v3: 3-33068698-G-GGCCTGTTTCTCTGCCTGGGCACCTTGTCAAGGTAAAAGACACCTGTT
• gnomAD v4: 3-33068698-G-GGCCTGTTTCTCTGCCTGGGCACCTTGTCAAGGTAAAAGACACCTGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33068698_33068699insGCCTGTTTCTCTGCCTGGGCACCTTGTCAAGGTAAAAGACACCTGTT , CM000665.2:g.33068698_33068699insGCCTGTTTCTCTGCCTGGGCACCTTGTCAAGGTAAAAGACACCTGTT	GRCh38
NC_000003.11:g.33110190_33110191insGCCTGTTTCTCTGCCTGGGCACCTTGTCAAGGTAAAAGACACCTGTT , CM000665.1:g.33110190_33110191insGCCTGTTTCTCTGCCTGGGCACCTTGTCAAGGTAAAAGACACCTGTT	GRCh37
NC_000003.10:g.33085194_33085195insGCCTGTTTCTCTGCCTGGGCACCTTGTCAAGGTAAAAGACACCTGTT	NCBI36
NG_009005.1:g.33504_33505insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.396+121_396+122insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC MANE Select	ENSP00000306920.4:n.396+121_396+122insAACAGGTGTCTTTTACCTTGACA...
ENST00000307363.9:c.396+121_396+122insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC	ENSP00000306920.4:n.396+121_396+122insAACAGGTGTCTTTTACCTTGACA...
ENST00000307377.12:c.246-3142_246-3141insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC	ENSP00000305920.8:n.246-3142_246-3141insAACAGGTGTCTTTTACCTTGA...
ENST00000399402.7:c.306+121_306+122insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC	ENSP00000382333.2:n.306+121_306+122insAACAGGTGTCTTTTACCTTGACA...
ENST00000415454.1:c.76-10430_76-10429insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC	ENSP00000411813.1:n.76-10430_76-10429insAACAGGTGTCTTTTACCTTGA...
ENST00000438227.1:c.76-3142_76-3141insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC	ENSP00000401250.1:n.76-3142_76-3141insAACAGGTGTCTTTTACCTTGACA...
ENST00000440656.1:c.3+121_3+122insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC	ENSP00000411769.1:n.3+121_3+122insAACAGGTGTCTTTTACCTTGACAAGGT...
ENST00000446732.5:c.156-3142_156-3141insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC	ENSP00000407365.1:n.156-3142_156-3141insAACAGGTGTCTTTTACCTTGA...
ENST00000464355.1:n.354+121_354+122insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC
ENST00000482097.5:n.109-15150_109-15149insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC
ENST00000485698.5:n.137-15150_137-15149insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC
ENST00000498537.5:n.133-15150_133-15149insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC
NM_000404.2:c.396+121_396+122insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC	NP_000395.2:n.396+121_396+122insAACAGGTGTCTTTTACCTTGACAAGGTGC...
NM_000404.3:c.396+121_396+122insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC	NP_000395.2:n.396+121_396+122insAACAGGTGTCTTTTACCTTGACAAGGTGC...
NM_001079811.1:c.306+121_306+122insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC	NP_001073279.1:n.306+121_306+122insAACAGGTGTCTTTTACCTTGACAAGG...
NM_001079811.2:c.306+121_306+122insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC	NP_001073279.1:n.306+121_306+122insAACAGGTGTCTTTTACCTTGACAAGG...
NM_001135602.1:c.246-3142_246-3141insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC	NP_001129074.1:n.246-3142_246-3141insAACAGGTGTCTTTTACCTTGACAA...
NM_001135602.2:c.246-3142_246-3141insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC	NP_001129074.1:n.246-3142_246-3141insAACAGGTGTCTTTTACCTTGACAA...
NM_001317040.1:c.540+121_540+122insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC	NP_001303969.1:n.540+121_540+122insAACAGGTGTCTTTTACCTTGACAAGG...
NM_000404.4:c.396+121_396+122insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC MANE Select	NP_000395.3:n.396+121_396+122insAACAGGTGTCTTTTACCTTGACAAGGTGC...
NM_001079811.3:c.306+121_306+122insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC	NP_001073279.2:n.306+121_306+122insAACAGGTGTCTTTTACCTTGACAAGG...
NM_001135602.3:c.246-3142_246-3141insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC	NP_001129074.2:n.246-3142_246-3141insAACAGGTGTCTTTTACCTTGACAA...
NM_001317040.2:c.540+121_540+122insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC	NP_001303969.2:n.540+121_540+122insAACAGGTGTCTTTTACCTTGACAAGG...
NM_001393580.1:c.396+121_396+122insAACAGGTGTCTTTTACCTTGACAAGGTGCCCAGGCAGAGAAACAGGC	NP_001380509.1:n.396+121_396+122insAACAGGTGTCTTTTACCTTGACAAGG...