Canonical Allele Identifier: CA2695200880
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2674417
ClinVar RCV Id: RCV003452613
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957950_87957999del , CM000672.2:g.87957950_87957999del GRCh38
NC_000010.10:g.89717707_89717756del , CM000672.1:g.89717707_89717756del GRCh37
NC_000010.9:g.89707687_89707736del NCBI36
NG_007466.2:g.99512_99561del , LRG_311:g.99512_99561del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.732_781del ENSP00000514759.2:p.Gln245GlufsTer?
ENST00000710265.1:c.732_781del ENSP00000518161.1:p.Gln245GlufsTer?
ENST00000472832.3:c.732_781del ENSP00000483066.2:p.Gln245GlufsTer?
ENST00000688158.2:n.1467_1516del
ENST00000688922.2:c.*562_*611del ENSP00000508742.2:n.*562_*611del
ENST00000700021.1:c.687_736del ENSP00000514757.1:p.Gln230GlufsTer?
ENST00000700022.1:c.*71_*120del ENSP00000514758.1:n.*71_*120del
ENST00000700023.1:n.1890_1939del
ENST00000700024.1:n.2124_2173del
ENST00000700025.1:n.1501_1550del
ENST00000700026.1:n.369_418del
ENST00000700029.1:c.566_615del
ENST00000706954.1:c.732_781del ENSP00000516674.1:p.Gln245GlufsTer?
ENST00000706955.1:c.*767_*816del ENSP00000516675.1:n.*767_*816del
ENST00000686459.1:c.*318_*367del ENSP00000508909.1:n.*318_*367del
ENST00000688158.1:c.*843_*892del ENSP00000509254.1:n.*843_*892del
ENST00000688308.1:c.732_781del ENSP00000508752.1:p.Gln245GlufsTer?
ENST00000688922.1:c.653_702del
ENST00000693560.1:c.1251_1300del ENSP00000509861.1:p.Gln418GlufsTer?
ENST00000371953.8:c.732_781del MANE Select ENSP00000361021.3:p.Gln245GlufsTer?
ENST00000371953.7:c.732_781del ENSP00000361021.3:p.Gln245GlufsTer?
ENST00000472832.2:c.159_208del ENSP00000483066.1:p.Gln54GlufsTer?
NM_000314.5:c.732_781del NP_000305.3:p.Gln245GlufsTer?
NM_000314.6:c.732_781del NP_000305.3:p.Gln245GlufsTer?
NM_001304717.2:c.1251_1300del NP_001291646.2:p.Gln418GlufsTer?
NM_001304718.1:c.141_190del NP_001291647.1:p.Gln48GlufsTer?
XM_006717926.2:c.687_736del XP_006717989.1:p.Gln230GlufsTer?
XM_011539981.1:c.732_781del XP_011538283.1:p.Gln245GlufsTer?
XM_011539982.1:c.636_685del XP_011538284.1:p.Gln213GlufsTer?
XR_945791.1:n.1302_1351del
NM_000314.7:c.732_781del NP_000305.3:p.Gln245GlufsTer?
NM_001304717.5:c.1251_1300del NP_001291646.4:p.Gln418GlufsTer?
NM_001304718.2:c.141_190del NP_001291647.1:p.Gln48GlufsTer?
NM_000314.8:c.732_781del MANE Select NP_000305.3:p.Gln245GlufsTer?
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