Canonical Allele Identifier: CA2574979925

Gene: BCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193530del , CM000673.2:g.112193530del	GRCh38
NC_000011.9:g.112064253del , CM000673.1:g.112064253del	GRCh37
NC_000011.8:g.111569463del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.350del MANE Select	ENSP00000350314.5:p.Gly117AlafsTer3
ENST00000357685.9:c.350del	ENSP00000350314.5:p.Gly117AlafsTer3
ENST00000361053.8:c.350del	ENSP00000354338.4:p.Gly117AlafsTer3
ENST00000438022.5:c.248del	ENSP00000414843.1:p.Gly83AlafsTer3
ENST00000460924.6:n.442del
ENST00000494860.5:n.202del
ENST00000525468.1:n.339del
ENST00000525987.5:n.693del
ENST00000526088.5:c.248del	ENSP00000436615.1:p.Gly83AlafsTer3
ENST00000527939.1:c.145del	ENSP00000436956.1:p.Ala49HisfsTer12
ENST00000530677.1:c.57del
ENST00000531169.5:c.248del	ENSP00000437053.1:p.Gly83AlafsTer3
ENST00000532593.5:c.35del	ENSP00000431802.1:p.Gly12AlafsTer3
ENST00000532612.5:c.280del
ENST00000532699.1:c.*112del	ENSP00000456434.1:n.*112del
ENST00000534122.5:n.965del
ENST00000534550.5:c.145del	ENSP00000434488.1:p.Ala49HisfsTer12
NM_001037290.2:c.248del	NP_001032367.2:p.Gly83AlafsTer3
NM_001256397.1:c.248del	NP_001243326.1:p.Gly83AlafsTer3
NM_001256398.1:c.350del	NP_001243327.1:p.Gly117AlafsTer3
NM_001256400.1:c.35del	NP_001243329.1:p.Gly12AlafsTer3
NM_031938.5:c.350del	NP_114144.4:p.Gly117AlafsTer3
NM_001037290.3:c.248del	NP_001032367.3:p.Gly83AlafsTer3
NM_001256397.2:c.248del	NP_001243326.2:p.Gly83AlafsTer3
NM_001256398.2:c.350del	NP_001243327.2:p.Gly117AlafsTer3
NM_001256400.2:c.35del	NP_001243329.2:p.Gly12AlafsTer3
NM_031938.7:c.350del MANE Select	NP_114144.5:p.Gly117AlafsTer3
NM_001037290.4:c.248del	NP_001032367.3:p.Gly83AlafsTer3
NM_001256397.3:c.248del	NP_001243326.2:p.Gly83AlafsTer3
NM_001256398.3:c.350del	NP_001243327.2:p.Gly117AlafsTer3
NM_001256400.3:c.35del	NP_001243329.2:p.Gly12AlafsTer3