Canonical Allele Identifier: CA000473

Gene: PTEN

Linked Data

• ClinVar Variation Id: 189448
• ClinVar RCV Id: RCV000169841 ; RCV000477296 ; RCV000581985 ; RCV001258103 ; RCV001528146
• dbSNP Id: rs786204900
• COSMIC: COSM5847 ; COSM1968242
• MyVariant Identifiers: chr10:g.89693007del (hg19) ; chr10:g.87933250del (hg38)
• PubMed: PMID:11918710 ; PMID:17392703 ; PMID:20962022 ; PMID:21956414 ; PMID:22266152 ; PMID:24345843 ; PMID:24778394 ; PMID:26787237 ; PMID:27477328

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933250del , CM000672.2:g.87933250del	GRCh38
NC_000010.10:g.89693007del , CM000672.1:g.89693007del	GRCh37
NC_000010.9:g.89682987del	NCBI36
NG_007466.2:g.74812del , LRG_311:g.74812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.491del	ENSP00000514759.2:p.Lys164ArgfsTer3
ENST00000710265.1:c.491del	ENSP00000518161.1:p.Lys164ArgfsTer3
ENST00000472832.3:c.491del	ENSP00000483066.2:p.Lys164ArgfsTer3
ENST00000688158.2:n.1226del
ENST00000688922.2:c.*321del	ENSP00000508742.2:n.*321del
ENST00000700021.1:c.446del	ENSP00000514757.1:p.Lys149ArgfsTer3
ENST00000700022.1:c.491del	ENSP00000514758.1:p.Lys164ArgfsTer?
ENST00000700029.1:c.325del
ENST00000706954.1:c.491del	ENSP00000516674.1:p.Lys164ArgfsTer3
ENST00000706955.1:c.*526del	ENSP00000516675.1:n.*526del
ENST00000686459.1:c.491del	ENSP00000508909.1:p.Lys164ArgfsTer16
ENST00000688158.1:c.*602del	ENSP00000509254.1:n.*602del
ENST00000688308.1:c.491del	ENSP00000508752.1:p.Lys164ArgfsTer3
ENST00000688922.1:c.412del
ENST00000693560.1:c.1010del	ENSP00000509861.1:p.Lys337ArgfsTer3
ENST00000371953.8:c.491del MANE Select	ENSP00000361021.3:p.Lys164ArgfsTer3
ENST00000371953.7:c.491del	ENSP00000361021.3:p.Lys164ArgfsTer3
ENST00000498703.1:n.317del
ENST00000610634.1:c.389del	ENSP00000477517.1:p.Lys130ArgfsTer16
NM_000314.5:c.491del	NP_000305.3:p.Lys164ArgfsTer3
NM_000314.6:c.491del	NP_000305.3:p.Lys164ArgfsTer3
NM_001304717.2:c.1010del	NP_001291646.2:p.Lys337ArgfsTer3
NM_001304718.1:c.-260del	NP_001291647.1:n.-260del
XM_006717926.2:c.446del	XP_006717989.1:p.Lys149ArgfsTer3
XM_011539981.1:c.491del	XP_011538283.1:p.Lys164ArgfsTer3
XM_011539982.1:c.395del	XP_011538284.1:p.Lys132ArgfsTer3
XR_945789.1:n.1203del
XR_945790.1:n.1203del
XR_945791.1:n.1203del
NM_000314.7:c.491del	NP_000305.3:p.Lys164ArgfsTer3
NM_001304717.5:c.1010del	NP_001291646.4:p.Lys337ArgfsTer3
NM_001304718.2:c.-260del	NP_001291647.1:n.-260del
NM_000314.8:c.491del MANE Select	NP_000305.3:p.Lys164ArgfsTer3