Canonical Allele Identifier: CA2664927798
Community Standard Title: NM_000404.4(GLB1):c.256_257insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA (p.Trp86Ter)
Gene: GLB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33068959_33068960insTACCAATTCAAAGAATTACCAGTTTATCAGTAAGATCTGGTTACGTAGTTCAAAGCCTAATTTCCT , CM000665.2:g.33068959_33068960insTACCAATTCAAAGAATTACCAGTTTATCAGTAAGATCTGGTTACGTAGTTCAAAGCCTAATTTCCT GRCh38
NC_000003.11:g.33110451_33110452insTACCAATTCAAAGAATTACCAGTTTATCAGTAAGATCTGGTTACGTAGTTCAAAGCCTAATTTCCT , CM000665.1:g.33110451_33110452insTACCAATTCAAAGAATTACCAGTTTATCAGTAAGATCTGGTTACGTAGTTCAAAGCCTAATTTCCT GRCh37
NC_000003.10:g.33085455_33085456insTACCAATTCAAAGAATTACCAGTTTATCAGTAAGATCTGGTTACGTAGTTCAAAGCCTAATTTCCT NCBI36
NG_009005.1:g.33243_33244insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA

Transcript Alleles

HGVS Amino-acid Change
NM_000404.4:c.256_257insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA MANE Select NP_000395.3:p.Trp86Ter
ENST00000307363.10:c.256_257insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA MANE Select ENSP00000306920.4:p.Trp86Ter
NM_000404.2:c.256_257insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA NP_000395.2:p.Trp86Ter
NM_000404.3:c.256_257insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA NP_000395.2:p.Trp86Ter
NM_001079811.1:c.166_167insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA NP_001073279.1:p.Trp56Ter
NM_001079811.2:c.166_167insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA NP_001073279.1:p.Trp56Ter
NM_001079811.3:c.166_167insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA NP_001073279.2:p.Trp56Ter
NM_001135602.1:c.246-3403_246-3402insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA NP_001129074.1:n.246-3403_246-3402insAGGAAATTAGGCTTTGAACTACGT...
NM_001135602.2:c.246-3403_246-3402insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA NP_001129074.1:n.246-3403_246-3402insAGGAAATTAGGCTTTGAACTACGT...
NM_001135602.3:c.246-3403_246-3402insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA NP_001129074.2:n.246-3403_246-3402insAGGAAATTAGGCTTTGAACTACGT...
NM_001317040.1:c.400_401insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA NP_001303969.1:p.Trp134Ter
NM_001317040.2:c.400_401insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA NP_001303969.2:p.Trp134Ter
NM_001393580.1:c.256_257insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA NP_001380509.1:p.Trp86Ter
ENST00000307363.9:c.256_257insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA ENSP00000306920.4:p.Trp86Ter
ENST00000307377.12:c.246-3403_246-3402insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA ENSP00000305920.8:n.246-3403_246-3402insAGGAAATTAGGCTTTGAACTA...
ENST00000399402.7:c.166_167insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA ENSP00000382333.2:p.Trp56Ter
ENST00000415454.1:c.76-10691_76-10690insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA ENSP00000411813.1:n.76-10691_76-10690insAGGAAATTAGGCTTTGAACTA...
ENST00000436768.1:c.400_401insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA ENSP00000387989.1:p.Trp134Ter
ENST00000438227.1:c.76-3403_76-3402insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA ENSP00000401250.1:n.76-3403_76-3402insAGGAAATTAGGCTTTGAACTACG...
ENST00000440656.1:c.-138_-137insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA ENSP00000411769.1:n.-138_-137insAGGAAATTAGGCTTTGAACTACGTAACCA...
ENST00000446732.5:c.156-3403_156-3402insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA ENSP00000407365.1:n.156-3403_156-3402insAGGAAATTAGGCTTTGAACTA...
ENST00000450835.1:c.166_167insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA ENSP00000403264.1:p.Trp56Ter
ENST00000464355.1:n.214_215insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA
ENST00000482097.5:n.109-15411_109-15410insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA
ENST00000485698.5:n.137-15411_137-15410insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA
ENST00000498537.5:n.133-15411_133-15410insAGGAAATTAGGCTTTGAACTACGTAACCAGATCTTACTGATAAACTGGTAATTCTTTGAATTGGTA