Canonical Allele Identifier: CA2634485931

Gene: BCO1

Linked Data

• gnomAD v4: 16-81280790-ACTAAAGCAAATGTTTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81280793_81280808del , CM000678.2:g.81280793_81280808del	GRCh38
NC_000016.9:g.81314398_81314413del , CM000678.1:g.81314398_81314413del	GRCh37
NC_000016.8:g.79871899_79871914del	NCBI36
NG_012171.1:g.47103_47118del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258168.7:c.1102-64_1102-49del MANE Select	ENSP00000258168.2:n.1102-64_1102-49del
ENST00000258168.6:c.1102-64_1102-49del	ENSP00000258168.2:n.1102-64_1102-49del
ENST00000563804.5:c.*726-64_*726-49del	ENSP00000457910.1:n.*726-64_*726-49del
NM_017429.2:c.1102-64_1102-49del	NP_059125.2:n.1102-64_1102-49del
XM_011523109.1:c.1102-6502_1102-6487del	XP_011521411.1:n.1102-6502_1102-6487del
XM_011523110.1:c.553-64_553-49del	XP_011521412.1:n.553-64_553-49del
XM_011523109.2:c.1102-6502_1102-6487del	XP_011521411.1:n.1102-6502_1102-6487del
XM_017023286.2:c.1102-64_1102-49del	XP_016878775.1:n.1102-64_1102-49del
XM_017023287.2:c.1102-64_1102-49del	XP_016878776.1:n.1102-64_1102-49del
XM_017023288.2:c.1102-64_1102-49del	XP_016878777.1:n.1102-64_1102-49del
XM_017023289.1:c.325-64_325-49del	XP_016878778.1:n.325-64_325-49del
XR_002957813.1:n.1429-64_1429-49del
NM_017429.3:c.1102-64_1102-49del MANE Select	NP_059125.2:n.1102-64_1102-49del