Canonical Allele Identifier: CA2525278585
Gene: BCO2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112193519_112193522del , CM000673.2:g.112193519_112193522del GRCh38
NC_000011.9:g.112064242_112064245del , CM000673.1:g.112064242_112064245del GRCh37
NC_000011.8:g.111569452_111569455del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357685.11:c.339_342del MANE Select ENSP00000350314.5:p.Met114GlnfsTer5
ENST00000357685.9:c.339_342del ENSP00000350314.5:p.Met114GlnfsTer5
ENST00000361053.8:c.339_342del ENSP00000354338.4:p.Met114GlnfsTer5
ENST00000438022.5:c.237_240del ENSP00000414843.1:p.Met80GlnfsTer5
ENST00000460924.6:n.431_434del
ENST00000494860.5:n.191_194del
ENST00000525468.1:n.328_331del
ENST00000525987.5:n.682_685del
ENST00000526088.5:c.237_240del ENSP00000436615.1:p.Met80GlnfsTer5
ENST00000527939.1:c.134_137del ENSP00000436956.1:p.Glu45GlyfsTer15
ENST00000530677.1:c.46_49del
ENST00000531169.5:c.237_240del ENSP00000437053.1:p.Met80GlnfsTer5
ENST00000532593.5:c.24_27del ENSP00000431802.1:p.Met9GlnfsTer5
ENST00000532612.5:c.269_272del
ENST00000532699.1:c.*101_*104del ENSP00000456434.1:n.*101_*104del
ENST00000534122.5:n.954_957del
ENST00000534550.5:c.134_137del ENSP00000434488.1:p.Glu45GlyfsTer15
NM_001037290.2:c.237_240del NP_001032367.2:p.Met80GlnfsTer5
NM_001256397.1:c.237_240del NP_001243326.1:p.Met80GlnfsTer5
NM_001256398.1:c.339_342del NP_001243327.1:p.Met114GlnfsTer5
NM_001256400.1:c.24_27del NP_001243329.1:p.Met9GlnfsTer5
NM_031938.5:c.339_342del NP_114144.4:p.Met114GlnfsTer5
NM_001037290.3:c.237_240del NP_001032367.3:p.Met80GlnfsTer5
NM_001256397.2:c.237_240del NP_001243326.2:p.Met80GlnfsTer5
NM_001256398.2:c.339_342del NP_001243327.2:p.Met114GlnfsTer5
NM_001256400.2:c.24_27del NP_001243329.2:p.Met9GlnfsTer5
NM_031938.7:c.339_342del MANE Select NP_114144.5:p.Met114GlnfsTer5
NM_001037290.4:c.237_240del NP_001032367.3:p.Met80GlnfsTer5
NM_001256397.3:c.237_240del NP_001243326.2:p.Met80GlnfsTer5
NM_001256398.3:c.339_342del NP_001243327.2:p.Met114GlnfsTer5
NM_001256400.3:c.24_27del NP_001243329.2:p.Met9GlnfsTer5