Canonical Allele Identifier: CA918969228
Gene: BCO2 HGNC NCBI

Linked Data

dbSNP Id: rs1566779951

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112193651_112193667del , CM000673.2:g.112193651_112193667del GRCh38
NC_000011.9:g.112064374_112064390del , CM000673.1:g.112064374_112064390del GRCh37
NC_000011.8:g.111569584_111569600del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357685.11:c.471_487del MANE Select ENSP00000350314.5:p.Phe158GlnfsTer3
ENST00000357685.9:c.471_487del ENSP00000350314.5:p.Phe158GlnfsTer3
ENST00000361053.8:c.471_487del ENSP00000354338.4:p.Phe158GlnfsTer3
ENST00000438022.5:c.369_385del ENSP00000414843.1:p.Phe124GlnfsTer3
ENST00000460924.6:n.563_579del
ENST00000494860.5:n.323_339del
ENST00000525987.5:n.814_830del
ENST00000526088.5:c.369_385del ENSP00000436615.1:p.Phe124GlnfsTer3
ENST00000527939.1:c.*113_*129del ENSP00000436956.1:n.*113_*129del
ENST00000530677.1:c.178_194del
ENST00000531169.5:c.369_385del ENSP00000437053.1:p.Phe124GlnfsTer3
ENST00000532593.5:c.156_172del ENSP00000431802.1:p.Phe53GlnfsTer3
ENST00000532612.5:c.401_417del
ENST00000534122.5:n.1086_1102del
ENST00000534550.5:c.*113_*129del ENSP00000434488.1:n.*113_*129del
NM_001037290.2:c.369_385del NP_001032367.2:p.Phe124GlnfsTer3
NM_001256397.1:c.369_385del NP_001243326.1:p.Phe124GlnfsTer3
NM_001256398.1:c.471_487del NP_001243327.1:p.Phe158GlnfsTer3
NM_001256400.1:c.156_172del NP_001243329.1:p.Phe53GlnfsTer3
NM_031938.5:c.471_487del NP_114144.4:p.Phe158GlnfsTer3
NM_001037290.3:c.369_385del NP_001032367.3:p.Phe124GlnfsTer3
NM_001256397.2:c.369_385del NP_001243326.2:p.Phe124GlnfsTer3
NM_001256398.2:c.471_487del NP_001243327.2:p.Phe158GlnfsTer3
NM_001256400.2:c.156_172del NP_001243329.2:p.Phe53GlnfsTer3
NM_031938.7:c.471_487del MANE Select NP_114144.5:p.Phe158GlnfsTer3
NM_001037290.4:c.369_385del NP_001032367.3:p.Phe124GlnfsTer3
NM_001256397.3:c.369_385del NP_001243326.2:p.Phe124GlnfsTer3
NM_001256398.3:c.471_487del NP_001243327.2:p.Phe158GlnfsTer3
NM_001256400.3:c.156_172del NP_001243329.2:p.Phe53GlnfsTer3