Canonical Allele Identifier: CA915952381

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129558726dup , CM000685.2:g.129558726dup	GRCh38
NC_000023.10:g.128692703dup , CM000685.1:g.128692703dup	GRCh37
NC_000023.9:g.128520384dup	NCBI36
NG_008638.1:g.23452dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.533dup MANE Select	NP_000267.2:p.Pro179ThrfsTer8
ENST00000371113.9:c.533dup MANE Select	ENSP00000360154.4:p.Pro179ThrfsTer8
NM_000276.3:c.533dup	NP_000267.2:p.Pro179ThrfsTer8
NM_001318784.1:c.536dup	NP_001305713.1:p.Pro180ThrfsTer8
NM_001318784.2:c.536dup	NP_001305713.1:p.Pro180ThrfsTer8
NM_001587.3:c.533dup	NP_001578.2:p.Pro179ThrfsTer8
NM_001587.4:c.533dup	NP_001578.2:p.Pro179ThrfsTer8
ENST00000357121.5:c.533dup	ENSP00000349635.5:p.Pro179ThrfsTer8
ENST00000371113.8:c.533dup	ENSP00000360154.4:p.Pro179ThrfsTer8
ENST00000486673.1:n.775dup
ENST00000646010.1:c.581dup
ENST00000647245.1:c.184dup
ENST00000689093.1:c.1610dup
ENST00000691455.1:c.*825dup	ENSP00000510265.1:n.*825dup
ENST00000693473.1:c.650dup
XM_005262422.1:c.62dup	XP_005262479.1:p.Pro22ThrfsTer8
XM_005262422.2:c.62dup	XP_005262479.1:p.Pro22ThrfsTer8
XM_011531342.1:c.536dup	XP_011529644.1:p.Pro180ThrfsTer8
XM_011531343.1:c.536dup	XP_011529645.1:p.Pro180ThrfsTer8
XM_011531344.1:c.389dup	XP_011529646.1:p.Pro131ThrfsTer8
XM_011531344.3:c.389dup	XP_011529646.1:p.Pro131ThrfsTer8
XM_011531345.1:c.389dup	XP_011529647.1:p.Pro131ThrfsTer8
XM_011531345.3:c.389dup	XP_011529647.1:p.Pro131ThrfsTer8
XM_011531346.1:c.536dup	XP_011529648.1:p.Pro180ThrfsTer8
XM_017029554.1:c.533dup	XP_016885043.1:p.Pro179ThrfsTer8