Canonical Allele Identifier: CA658799856

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129562414_129562430del , CM000685.2:g.129562414_129562430del	GRCh38
NC_000023.10:g.128696391_128696407del , CM000685.1:g.128696391_128696407del	GRCh37
NC_000023.9:g.128524072_128524088del	NCBI36
NG_008638.1:g.27140_27156del

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.970_986del MANE Select	NP_000267.2:p.Leu324LysfsTer9
ENST00000371113.9:c.970_986del MANE Select	ENSP00000360154.4:p.Leu324LysfsTer9
NM_000276.3:c.970_986del	NP_000267.2:p.Leu324LysfsTer9
NM_001318784.1:c.973_989del	NP_001305713.1:p.Leu325LysfsTer9
NM_001318784.2:c.973_989del	NP_001305713.1:p.Leu325LysfsTer9
NM_001587.3:c.970_986del	NP_001578.2:p.Leu324LysfsTer9
NM_001587.4:c.970_986del	NP_001578.2:p.Leu324LysfsTer9
ENST00000357121.5:c.970_986del	ENSP00000349635.5:p.Leu324LysfsTer9
ENST00000371113.8:c.970_986del	ENSP00000360154.4:p.Leu324LysfsTer9
ENST00000646010.1:c.1018_1034del
ENST00000646914.1:c.81_97del
ENST00000647245.1:c.621_637del
ENST00000691455.1:c.*1262_*1278del	ENSP00000510265.1:n.*1262_*1278del
ENST00000693473.1:c.1087_1103del
XM_005262422.1:c.499_515del	XP_005262479.1:p.Leu167LysfsTer9
XM_005262422.2:c.499_515del	XP_005262479.1:p.Leu167LysfsTer9
XM_011531342.1:c.973_989del	XP_011529644.1:p.Leu325LysfsTer9
XM_011531343.1:c.973_989del	XP_011529645.1:p.Leu325LysfsTer9
XM_011531344.1:c.826_842del	XP_011529646.1:p.Leu276LysfsTer9
XM_011531344.3:c.826_842del	XP_011529646.1:p.Leu276LysfsTer9
XM_011531345.1:c.826_842del	XP_011529647.1:p.Leu276LysfsTer9
XM_011531345.3:c.826_842del	XP_011529647.1:p.Leu276LysfsTer9
XM_011531346.1:c.973_989del	XP_011529648.1:p.Leu325LysfsTer9
XM_017029554.1:c.970_986del	XP_016885043.1:p.Leu324LysfsTer9