Canonical Allele Identifier: CA2000603771
Gene: BCO2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112193516_112193518delinsCAG , CM000673.2:g.112193516_112193518delinsCAG GRCh38
NC_000011.9:g.112064239_112064241delinsCAG , CM000673.1:g.112064239_112064241delinsCAG GRCh37
NC_000011.8:g.111569449_111569451delinsCAG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357685.11:c.336_338delinsCAG MANE Select ENSP00000350314.5:p.Phe112=
ENST00000357685.9:c.336_338delinsCAG ENSP00000350314.5:p.Phe112=
ENST00000361053.8:c.336_338delinsCAG ENSP00000354338.4:p.Phe112=
ENST00000438022.5:c.234_236delinsCAG ENSP00000414843.1:p.Phe78=
ENST00000460924.6:n.428_430delinsCAG
ENST00000494860.5:n.188_190delinsCAG
ENST00000525468.1:n.325_327delinsCAG
ENST00000525987.5:n.679_681delinsCAG
ENST00000526088.5:c.234_236delinsCAG ENSP00000436615.1:p.Phe78=
ENST00000527939.1:c.131_133delinsCAG ENSP00000436956.1:p.Ser44=
ENST00000530677.1:c.43_45delinsCAG
ENST00000531169.5:c.234_236delinsCAG ENSP00000437053.1:p.Phe78=
ENST00000532593.5:c.21_23delinsCAG ENSP00000431802.1:p.Phe7=
ENST00000532612.5:c.266_268delinsCAG
ENST00000532699.1:c.*98_*100delinsCAG ENSP00000456434.1:n.*98_*100delinsCAG
ENST00000534122.5:n.951_953delinsCAG
ENST00000534550.5:c.131_133delinsCAG ENSP00000434488.1:p.Ser44=
NM_001037290.2:c.234_236delinsCAG NP_001032367.2:p.Phe78=
NM_001256397.1:c.234_236delinsCAG NP_001243326.1:p.Phe78=
NM_001256398.1:c.336_338delinsCAG NP_001243327.1:p.Phe112=
NM_001256400.1:c.21_23delinsCAG NP_001243329.1:p.Phe7=
NM_031938.5:c.336_338delinsCAG NP_114144.4:p.Phe112=
NM_001037290.3:c.234_236delinsCAG NP_001032367.3:p.Phe78=
NM_001256397.2:c.234_236delinsCAG NP_001243326.2:p.Phe78=
NM_001256398.2:c.336_338delinsCAG NP_001243327.2:p.Phe112=
NM_001256400.2:c.21_23delinsCAG NP_001243329.2:p.Phe7=
NM_031938.7:c.336_338delinsCAG MANE Select NP_114144.5:p.Phe112=
NM_001037290.4:c.234_236delinsCAG NP_001032367.3:p.Phe78=
NM_001256397.3:c.234_236delinsCAG NP_001243326.2:p.Phe78=
NM_001256398.3:c.336_338delinsCAG NP_001243327.2:p.Phe112=
NM_001256400.3:c.21_23delinsCAG NP_001243329.2:p.Phe7=