Canonical Allele Identifier: CA518546418

Gene: OCRL

Linked Data

• MyVariant Identifiers: chrX:g.128723887delA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129589910del , CM000685.2:g.129589910del	GRCh38
NC_000023.10:g.128723887del , CM000685.1:g.128723887del	GRCh37
NC_000023.9:g.128551568del	NCBI36
NG_008638.1:g.54636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000693473.1:c.2652del
ENST00000371113.9:c.2535del MANE Select	ENSP00000360154.4:p.Glu845AspfsTer3
ENST00000646010.1:c.2583del
ENST00000646914.1:c.1840del
ENST00000647245.1:c.2086del
ENST00000357121.5:c.2511del	ENSP00000349635.5:p.Glu837AspfsTer3
ENST00000371113.8:c.2535del	ENSP00000360154.4:p.Glu845AspfsTer3
ENST00000463271.1:n.322del
NM_000276.3:c.2535del	NP_000267.2:p.Glu845AspfsTer3
NM_001587.3:c.2511del	NP_001578.2:p.Glu837AspfsTer3
XM_005262422.1:c.2064del	XP_005262479.1:p.Glu688AspfsTer3
XM_011531342.1:c.2538del	XP_011529644.1:p.Glu846AspfsTer3
XM_011531343.1:c.2514del	XP_011529645.1:p.Glu838AspfsTer3
XM_011531344.1:c.2391del	XP_011529646.1:p.Glu797AspfsTer3
XM_011531345.1:c.2391del	XP_011529647.1:p.Glu797AspfsTer3
NM_001318784.1:c.2538del	NP_001305713.1:p.Glu846AspfsTer3
XM_005262422.2:c.2064del	XP_005262479.1:p.Glu688AspfsTer3
XM_011531344.3:c.2391del	XP_011529646.1:p.Glu797AspfsTer3
XM_011531345.3:c.2391del	XP_011529647.1:p.Glu797AspfsTer3
NM_000276.4:c.2535del MANE Select	NP_000267.2:p.Glu845AspfsTer3
NM_001318784.2:c.2538del	NP_001305713.1:p.Glu846AspfsTer3
NM_001587.4:c.2511del	NP_001578.2:p.Glu837AspfsTer3