Canonical Allele Identifier: CA916081609
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 846669
ClinVar RCV Id: RCV001050029
dbSNP Id: rs1860551073

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958001del , CM000672.2:g.87958001del GRCh38
NC_000010.10:g.89717758del , CM000672.1:g.89717758del GRCh37
NC_000010.9:g.89707738del NCBI36
NG_007466.2:g.99563del , LRG_311:g.99563del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.783del ENSP00000514759.2:p.Asn262ThrfsTer4
ENST00000710265.1:c.783del ENSP00000518161.1:p.Asn262ThrfsTer4
ENST00000472832.3:c.783del ENSP00000483066.2:p.Asn262ThrfsTer4
ENST00000688158.2:n.1518del
ENST00000688922.2:c.*613del ENSP00000508742.2:n.*613del
ENST00000700021.1:c.738del ENSP00000514757.1:p.Asn247ThrfsTer4
ENST00000700022.1:c.*122del ENSP00000514758.1:n.*122del
ENST00000700023.1:n.1941del
ENST00000700024.1:n.2175del
ENST00000700025.1:n.1552del
ENST00000700026.1:n.420del
ENST00000700029.1:c.617del
ENST00000706954.1:c.783del ENSP00000516674.1:p.Asn262ThrfsTer4
ENST00000706955.1:c.*818del ENSP00000516675.1:n.*818del
ENST00000686459.1:c.*369del ENSP00000508909.1:n.*369del
ENST00000688158.1:c.*894del ENSP00000509254.1:n.*894del
ENST00000688308.1:c.783del ENSP00000508752.1:p.Asn262ThrfsTer4
ENST00000688922.1:c.704del
ENST00000693560.1:c.1302del ENSP00000509861.1:p.Asn435ThrfsTer4
ENST00000371953.8:c.783del MANE Select ENSP00000361021.3:p.Asn262ThrfsTer4
ENST00000371953.7:c.783del ENSP00000361021.3:p.Asn262ThrfsTer4
ENST00000472832.2:c.210del ENSP00000483066.1:p.Asn71ThrfsTer4
NM_000314.5:c.783del NP_000305.3:p.Asn262ThrfsTer4
NM_000314.6:c.783del NP_000305.3:p.Asn262ThrfsTer4
NM_001304717.2:c.1302del NP_001291646.2:p.Asn435ThrfsTer4
NM_001304718.1:c.192del NP_001291647.1:p.Asn65ThrfsTer4
XM_006717926.2:c.738del XP_006717989.1:p.Asn247ThrfsTer4
XM_011539981.1:c.783del XP_011538283.1:p.Asn262ThrfsTer4
XM_011539982.1:c.687del XP_011538284.1:p.Asn230ThrfsTer4
XR_945791.1:n.1353del
NM_000314.7:c.783del NP_000305.3:p.Asn262ThrfsTer4
NM_001304717.5:c.1302del NP_001291646.4:p.Asn435ThrfsTer4
NM_001304718.2:c.192del NP_001291647.1:p.Asn65ThrfsTer4
NM_000314.8:c.783del MANE Select NP_000305.3:p.Asn262ThrfsTer4