Canonical Allele Identifier: CA470882616

Gene: PTEN

Linked Data

• ClinVar Variation Id: 428259
• ClinVar RCV Id: RCV000491534 ; RCV001258102
• dbSNP Id: rs1114167671
• COSMIC: COSM41768
• MyVariant Identifiers: chr10:g.89685284del (hg19) ; chr10:g.87925527del (hg38)
• PubMed: PMID:12920084 ; PMID:15121767

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87925527del , CM000672.2:g.87925527del	GRCh38
NC_000010.10:g.89685284del , CM000672.1:g.89685284del	GRCh37
NC_000010.9:g.89675264del	NCBI36
NG_007466.2:g.67089del , LRG_311:g.67089del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.179del	ENSP00000514759.2:p.Lys60SerfsTer?
ENST00000710265.1:c.179del	ENSP00000518161.1:p.Lys60SerfsTer?
ENST00000472832.3:c.179del	ENSP00000483066.2:p.Lys60SerfsTer?
ENST00000688158.2:n.914del
ENST00000688922.2:c.179del	ENSP00000508742.2:p.Lys60SerfsTer17
ENST00000700021.1:c.165-5519del	ENSP00000514757.1:n.165-5519del
ENST00000700022.1:c.179del	ENSP00000514758.1:p.Lys60SerfsTer?
ENST00000700029.1:c.13del
ENST00000706954.1:c.179del	ENSP00000516674.1:p.Lys60SerfsTer?
ENST00000706955.1:c.*214del	ENSP00000516675.1:n.*214del
ENST00000686459.1:c.179del	ENSP00000508909.1:p.Lys60SerfsTer?
ENST00000688158.1:c.*290del	ENSP00000509254.1:n.*290del
ENST00000688308.1:c.179del	ENSP00000508752.1:p.Lys60SerfsTer?
ENST00000688922.1:c.48del
ENST00000693560.1:c.698del	ENSP00000509861.1:p.Lys233SerfsTer?
ENST00000371953.8:c.179del MANE Select	ENSP00000361021.3:p.Lys60SerfsTer?
ENST00000371953.7:c.179del	ENSP00000361021.3:p.Lys60SerfsTer?
ENST00000498703.1:n.5del
ENST00000610634.1:c.77del	ENSP00000477517.1:p.Lys26SerfsTer?
NM_000314.5:c.179del	NP_000305.3:p.Lys60SerfsTer?
NM_000314.6:c.179del	NP_000305.3:p.Lys60SerfsTer?
NM_001304717.2:c.698del	NP_001291646.2:p.Lys233SerfsTer?
NM_001304718.1:c.-541-5519del	NP_001291647.1:n.-541-5519del
XM_006717926.2:c.165-5519del	XP_006717989.1:n.165-5519del
XM_011539981.1:c.179del	XP_011538283.1:p.Lys60SerfsTer?
XM_011539982.1:c.83del	XP_011538284.1:p.Lys28SerfsTer?
XR_945789.1:n.891del
XR_945790.1:n.891del
XR_945791.1:n.891del
NM_000314.7:c.179del	NP_000305.3:p.Lys60SerfsTer?
NM_001304717.5:c.698del	NP_001291646.4:p.Lys233SerfsTer?
NM_001304718.2:c.-541-5519del	NP_001291647.1:n.-541-5519del
NM_000314.8:c.179del MANE Select	NP_000305.3:p.Lys60SerfsTer?