Canonical Allele Identifier: CA2236942890
Gene: BCO1 HGNC NCBI

Linked Data

dbSNP Id: rs1907829780

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81280709del , CM000678.2:g.81280709del GRCh38
NC_000016.9:g.81314314del , CM000678.1:g.81314314del GRCh37
NC_000016.8:g.79871815del NCBI36
NG_012171.1:g.47019del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258168.7:c.1102-148del MANE Select ENSP00000258168.2:n.1102-148del
ENST00000258168.6:c.1102-148del ENSP00000258168.2:n.1102-148del
ENST00000563804.5:c.*726-148del ENSP00000457910.1:n.*726-148del
NM_017429.2:c.1102-148del NP_059125.2:n.1102-148del
XM_011523109.1:c.1102-6586del XP_011521411.1:n.1102-6586del
XM_011523110.1:c.553-148del XP_011521412.1:n.553-148del
XM_011523109.2:c.1102-6586del XP_011521411.1:n.1102-6586del
XM_017023286.2:c.1102-148del XP_016878775.1:n.1102-148del
XM_017023287.2:c.1102-148del XP_016878776.1:n.1102-148del
XM_017023288.2:c.1102-148del XP_016878777.1:n.1102-148del
XM_017023289.1:c.325-148del XP_016878778.1:n.325-148del
XR_002957813.1:n.1429-148del
NM_017429.3:c.1102-148del MANE Select NP_059125.2:n.1102-148del