Canonical Allele Identifier: CA2236989429
Gene: BCO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81267903_81267904delinsGC , CM000678.2:g.81267903_81267904delinsGC GRCh38
NC_000016.9:g.81301508_81301509delinsGC , CM000678.1:g.81301508_81301509delinsGC GRCh37
NC_000016.8:g.79859009_79859010delinsGC NCBI36
NG_012171.1:g.34213_34214delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000258168.7:c.620-5_620-4delinsGC MANE Select ENSP00000258168.2:n.620-5_620-4delinsGC
ENST00000258168.6:c.620-5_620-4delinsGC ENSP00000258168.2:n.620-5_620-4delinsGC
ENST00000563804.5:c.*244-5_*244-4delinsGC ENSP00000457910.1:n.*244-5_*244-4delinsGC
NM_017429.2:c.620-5_620-4delinsGC NP_059125.2:n.620-5_620-4delinsGC
XM_011523109.1:c.620-5_620-4delinsGC XP_011521411.1:n.620-5_620-4delinsGC
XM_011523110.1:c.71-5_71-4delinsGC XP_011521412.1:n.71-5_71-4delinsGC
XM_011523109.2:c.620-5_620-4delinsGC XP_011521411.1:n.620-5_620-4delinsGC
XM_017023286.2:c.620-5_620-4delinsGC XP_016878775.1:n.620-5_620-4delinsGC
XM_017023287.2:c.620-5_620-4delinsGC XP_016878776.1:n.620-5_620-4delinsGC
XM_017023288.2:c.620-5_620-4delinsGC XP_016878777.1:n.620-5_620-4delinsGC
XM_017023289.1:c.-24-139_-24-138delinsGC XP_016878778.1:n.-24-139_-24-138delinsGC
XR_002957813.1:n.1081-139_1081-138delinsGC
NM_017429.3:c.620-5_620-4delinsGC MANE Select NP_059125.2:n.620-5_620-4delinsGC