Canonical Allele Identifier: CA601755100

Gene: BCO2

Linked Data

• dbSNP Id: rs1254532360
• gnomAD v2: 11-112085088-TCTCGAA-T
• gnomAD v3: 11-112214365-TCTCGAA-T
• gnomAD v4: 11-112214365-TCTCGAA-T
• MyVariant Identifiers: chr11:g.112085089_112085094del (hg19) ; chr11:g.112214366_112214371del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112214369_112214374del , CM000673.2:g.112214369_112214374del	GRCh38
NC_000011.9:g.112085092_112085097del , CM000673.1:g.112085092_112085097del	GRCh37
NC_000011.8:g.111590302_111590307del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.1333-393_1333-388del MANE Select	ENSP00000350314.5:n.1333-393_1333-388del
ENST00000357685.9:c.1333-393_1333-388del	ENSP00000350314.5:n.1333-393_1333-388del
ENST00000361053.8:c.1114-393_1114-388del	ENSP00000354338.4:n.1114-393_1114-388del
ENST00000438022.5:c.1231-393_1231-388del	ENSP00000414843.1:n.1231-393_1231-388del
ENST00000460924.6:n.2206-393_2206-388del
ENST00000494860.5:n.1366-393_1366-388del
ENST00000525175.1:c.21-393_21-388del
ENST00000526088.5:c.1231-393_1231-388del	ENSP00000436615.1:n.1231-393_1231-388del
ENST00000530677.1:c.635-393_635-388del
ENST00000531169.5:c.1231-393_1231-388del	ENSP00000437053.1:n.1231-393_1231-388del
ENST00000532593.5:c.1018-393_1018-388del	ENSP00000431802.1:n.1018-393_1018-388del
NM_001037290.2:c.1231-393_1231-388del	NP_001032367.2:n.1231-393_1231-388del
NM_001256397.1:c.1231-393_1231-388del	NP_001243326.1:n.1231-393_1231-388del
NM_001256398.1:c.1114-393_1114-388del	NP_001243327.1:n.1114-393_1114-388del
NM_001256400.1:c.1018-393_1018-388del	NP_001243329.1:n.1018-393_1018-388del
NM_031938.5:c.1333-393_1333-388del	NP_114144.4:n.1333-393_1333-388del
NM_001037290.3:c.1231-393_1231-388del	NP_001032367.3:n.1231-393_1231-388del
NM_001256397.2:c.1231-393_1231-388del	NP_001243326.2:n.1231-393_1231-388del
NM_001256398.2:c.1114-393_1114-388del	NP_001243327.2:n.1114-393_1114-388del
NM_001256400.2:c.1018-393_1018-388del	NP_001243329.2:n.1018-393_1018-388del
NM_031938.7:c.1333-393_1333-388del MANE Select	NP_114144.5:n.1333-393_1333-388del
NM_001037290.4:c.1231-393_1231-388del	NP_001032367.3:n.1231-393_1231-388del
NM_001256397.3:c.1231-393_1231-388del	NP_001243326.2:n.1231-393_1231-388del
NM_001256398.3:c.1114-393_1114-388del	NP_001243327.2:n.1114-393_1114-388del
NM_001256400.3:c.1018-393_1018-388del	NP_001243329.2:n.1018-393_1018-388del