Canonical Allele Identifier: CA349057
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 220275
ClinVar RCV Id: RCV000204863
dbSNP Id: rs864622451

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960937del , CM000672.2:g.87960937del GRCh38
NC_000010.10:g.89720694del , CM000672.1:g.89720694del GRCh37
NC_000010.9:g.89710674del NCBI36
NG_007466.2:g.102499del , LRG_311:g.102499del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.938del ENSP00000514759.2:p.Gly313AspfsTer9
ENST00000710265.1:c.845del ENSP00000518161.1:p.Gly282AspfsTer9
ENST00000472832.3:c.845del ENSP00000483066.2:p.Gly282AspfsTer9
ENST00000688158.2:n.1580del
ENST00000688922.2:c.*675del ENSP00000508742.2:n.*675del
ENST00000700021.1:c.800del ENSP00000514757.1:p.Gly267AspfsTer9
ENST00000700022.1:c.*184del ENSP00000514758.1:n.*184del
ENST00000700023.1:n.2003del
ENST00000700024.1:n.2237del
ENST00000700025.1:n.1614del
ENST00000700026.1:n.482del
ENST00000700029.1:c.772del
ENST00000706954.1:c.845del ENSP00000516674.1:p.Gly282AspfsTer9
ENST00000706955.1:c.*880del ENSP00000516675.1:n.*880del
ENST00000686459.1:c.*431del ENSP00000508909.1:n.*431del
ENST00000688158.1:c.*956del ENSP00000509254.1:n.*956del
ENST00000688308.1:c.845del ENSP00000508752.1:p.Gly282AspfsTer9
ENST00000688922.1:c.766del
ENST00000693560.1:c.1364del ENSP00000509861.1:p.Gly455AspfsTer9
ENST00000371953.8:c.845del MANE Select ENSP00000361021.3:p.Gly282AspfsTer9
ENST00000371953.7:c.845del ENSP00000361021.3:p.Gly282AspfsTer9
ENST00000472832.2:c.272del ENSP00000483066.1:p.Gly91AspfsTer9
NM_000314.5:c.845del NP_000305.3:p.Gly282AspfsTer9
NM_000314.6:c.845del NP_000305.3:p.Gly282AspfsTer9
NM_001304717.2:c.1364del NP_001291646.2:p.Gly455AspfsTer9
NM_001304718.1:c.254del NP_001291647.1:p.Gly85AspfsTer9
XM_006717926.2:c.800del XP_006717989.1:p.Gly267AspfsTer9
XM_011539981.1:c.845del XP_011538283.1:p.Gly282AspfsTer9
XM_011539982.1:c.749del XP_011538284.1:p.Gly250AspfsTer9
XR_945791.1:n.1415del
NM_000314.7:c.845del NP_000305.3:p.Gly282AspfsTer9
NM_001304717.5:c.1364del NP_001291646.4:p.Gly455AspfsTer9
NM_001304718.2:c.254del NP_001291647.1:p.Gly85AspfsTer9
NM_000314.8:c.845del MANE Select NP_000305.3:p.Gly282AspfsTer9