Canonical Allele Identifier: CA2615995079

Gene: BCO2

Linked Data

• gnomAD v4: 11-112193549-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193551del , CM000673.2:g.112193551del	GRCh38
NC_000011.9:g.112064274del , CM000673.1:g.112064274del	GRCh37
NC_000011.8:g.111569484del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.371del MANE Select	ENSP00000350314.5:p.Lys124SerfsTer18
ENST00000357685.9:c.371del	ENSP00000350314.5:p.Lys124SerfsTer18
ENST00000361053.8:c.371del	ENSP00000354338.4:p.Lys124SerfsTer18
ENST00000438022.5:c.269del	ENSP00000414843.1:p.Lys90SerfsTer18
ENST00000460924.6:n.463del
ENST00000494860.5:n.223del
ENST00000525468.1:n.360del
ENST00000525987.5:n.714del
ENST00000526088.5:c.269del	ENSP00000436615.1:p.Lys90SerfsTer18
ENST00000527939.1:c.*13del	ENSP00000436956.1:n.*13del
ENST00000530677.1:c.78del
ENST00000531169.5:c.269del	ENSP00000437053.1:p.Lys90SerfsTer18
ENST00000532593.5:c.56del	ENSP00000431802.1:p.Lys19SerfsTer18
ENST00000532612.5:c.301del
ENST00000532699.1:c.*133del	ENSP00000456434.1:n.*133del
ENST00000534122.5:n.986del
ENST00000534550.5:c.*13del	ENSP00000434488.1:n.*13del
NM_001037290.2:c.269del	NP_001032367.2:p.Lys90SerfsTer18
NM_001256397.1:c.269del	NP_001243326.1:p.Lys90SerfsTer18
NM_001256398.1:c.371del	NP_001243327.1:p.Lys124SerfsTer18
NM_001256400.1:c.56del	NP_001243329.1:p.Lys19SerfsTer18
NM_031938.5:c.371del	NP_114144.4:p.Lys124SerfsTer18
NM_001037290.3:c.269del	NP_001032367.3:p.Lys90SerfsTer18
NM_001256397.2:c.269del	NP_001243326.2:p.Lys90SerfsTer18
NM_001256398.2:c.371del	NP_001243327.2:p.Lys124SerfsTer18
NM_001256400.2:c.56del	NP_001243329.2:p.Lys19SerfsTer18
NM_031938.7:c.371del MANE Select	NP_114144.5:p.Lys124SerfsTer18
NM_001037290.4:c.269del	NP_001032367.3:p.Lys90SerfsTer18
NM_001256397.3:c.269del	NP_001243326.2:p.Lys90SerfsTer18
NM_001256398.3:c.371del	NP_001243327.2:p.Lys124SerfsTer18
NM_001256400.3:c.56del	NP_001243329.2:p.Lys19SerfsTer18