Canonical Allele Identifier: CA2599451095

Gene: BCO1

Linked Data

• gnomAD v3: 16-81280847-AT-A
• gnomAD v4: 16-81280847-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81280853del , CM000678.2:g.81280853del	GRCh38
NC_000016.9:g.81314458del , CM000678.1:g.81314458del	GRCh37
NC_000016.8:g.79871959del	NCBI36
NG_012171.1:g.47163del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258168.7:c.1102-4del MANE Select	ENSP00000258168.2:n.1102-4del
ENST00000258168.6:c.1102-4del	ENSP00000258168.2:n.1102-4del
ENST00000563804.5:c.*726-4del	ENSP00000457910.1:n.*726-4del
NM_017429.2:c.1102-4del	NP_059125.2:n.1102-4del
XM_011523109.1:c.1102-6442del	XP_011521411.1:n.1102-6442del
XM_011523110.1:c.553-4del	XP_011521412.1:n.553-4del
XM_011523109.2:c.1102-6442del	XP_011521411.1:n.1102-6442del
XM_017023286.2:c.1102-4del	XP_016878775.1:n.1102-4del
XM_017023287.2:c.1102-4del	XP_016878776.1:n.1102-4del
XM_017023288.2:c.1102-4del	XP_016878777.1:n.1102-4del
XM_017023289.1:c.325-4del	XP_016878778.1:n.325-4del
XR_002957813.1:n.1429-4del
NM_017429.3:c.1102-4del MANE Select	NP_059125.2:n.1102-4del