Canonical Allele Identifier: CA16603196
Gene: OCRL HGNC NCBI

Linked Data

ClinVar Variation Id: 376875
ClinVar RCV Id: RCV000441341
dbSNP Id: rs1057520078
MyVariant Identifiers: chrX:g.128696614del (hg19) chrX:g.129562637del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.129562637del , CM000685.2:g.129562637del GRCh38
NC_000023.10:g.128696614del , CM000685.1:g.128696614del GRCh37
NC_000023.9:g.128524295del NCBI36
NG_008638.1:g.27363del

Transcript Alleles

HGVS Amino-acid change
ENST00000691455.1:c.*1387del ENSP00000510265.1:n.*1387del
ENST00000693473.1:c.1212del
ENST00000371113.9:c.1095del MANE Select ENSP00000360154.4:p.His365GlnfsTer?
ENST00000646010.1:c.1143del
ENST00000646914.1:c.206del
ENST00000647245.1:c.746del
ENST00000357121.5:c.1095del ENSP00000349635.5:p.His365GlnfsTer?
ENST00000371113.8:c.1095del ENSP00000360154.4:p.His365GlnfsTer?
NM_000276.3:c.1095del NP_000267.2:p.His365GlnfsTer?
NM_001587.3:c.1095del NP_001578.2:p.His365GlnfsTer?
XM_005262422.1:c.624del XP_005262479.1:p.His208GlnfsTer?
XM_011531342.1:c.1098del XP_011529644.1:p.His366GlnfsTer?
XM_011531343.1:c.1098del XP_011529645.1:p.His366GlnfsTer?
XM_011531344.1:c.951del XP_011529646.1:p.His317GlnfsTer?
XM_011531345.1:c.951del XP_011529647.1:p.His317GlnfsTer?
XM_011531346.1:c.1098del XP_011529648.1:p.His366GlnfsTer?
NM_001318784.1:c.1098del NP_001305713.1:p.His366GlnfsTer?
XM_005262422.2:c.624del XP_005262479.1:p.His208GlnfsTer?
XM_011531344.3:c.951del XP_011529646.1:p.His317GlnfsTer?
XM_011531345.3:c.951del XP_011529647.1:p.His317GlnfsTer?
XM_017029554.1:c.1095del XP_016885043.1:p.His365GlnfsTer?
NM_000276.4:c.1095del MANE Select NP_000267.2:p.His365GlnfsTer?
NM_001318784.2:c.1098del NP_001305713.1:p.His366GlnfsTer?
NM_001587.4:c.1095del NP_001578.2:p.His365GlnfsTer?
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