Canonical Allele Identifier: CA645554130

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2673927
• ClinVar RCV Id: RCV003450541
• COSMIC: COSM1744939

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961078del , CM000672.2:g.87961078del	GRCh38
NC_000010.10:g.89720835del , CM000672.1:g.89720835del	GRCh37
NC_000010.9:g.89710815del	NCBI36
NG_007466.2:g.102640del , LRG_311:g.102640del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1079del	ENSP00000514759.2:p.Asn360IlefsTer15
ENST00000710265.1:c.986del	ENSP00000518161.1:p.Asn329IlefsTer18
ENST00000472832.3:c.986del	ENSP00000483066.2:p.Asn329IlefsTer?
ENST00000688158.2:n.1721del
ENST00000688922.2:c.*816del	ENSP00000508742.2:n.*816del
ENST00000700021.1:c.941del	ENSP00000514757.1:p.Asn314IlefsTer15
ENST00000700022.1:c.*325del	ENSP00000514758.1:n.*325del
ENST00000700023.1:n.2144del
ENST00000700024.1:n.2378del
ENST00000700025.1:n.1755del
ENST00000700026.1:n.623del
ENST00000706954.1:c.986del	ENSP00000516674.1:p.Asn329IlefsTer15
ENST00000706955.1:c.*1021del	ENSP00000516675.1:n.*1021del
ENST00000686459.1:c.*572del	ENSP00000508909.1:n.*572del
ENST00000688158.1:c.*1097del	ENSP00000509254.1:n.*1097del
ENST00000688308.1:c.986del	ENSP00000508752.1:p.Asn329IlefsTer15
ENST00000688922.1:c.907del
ENST00000693560.1:c.1505del	ENSP00000509861.1:p.Asn502IlefsTer15
ENST00000371953.8:c.986del MANE Select	ENSP00000361021.3:p.Asn329IlefsTer15
ENST00000371953.7:c.986del	ENSP00000361021.3:p.Asn329IlefsTer15
ENST00000472832.2:c.413del	ENSP00000483066.1:p.Asn138IlefsTer?
NM_000314.5:c.986del	NP_000305.3:p.Asn329IlefsTer15
NM_000314.6:c.986del	NP_000305.3:p.Asn329IlefsTer15
NM_001304717.2:c.1505del	NP_001291646.2:p.Asn502IlefsTer15
NM_001304718.1:c.395del	NP_001291647.1:p.Asn132IlefsTer15
XM_006717926.2:c.941del	XP_006717989.1:p.Asn314IlefsTer15
XM_011539981.1:c.986del	XP_011538283.1:p.Asn329IlefsTer18
XM_011539982.1:c.890del	XP_011538284.1:p.Asn297IlefsTer15
XR_945791.1:n.1556del
NM_000314.7:c.986del	NP_000305.3:p.Asn329IlefsTer15
NM_001304717.5:c.1505del	NP_001291646.4:p.Asn502IlefsTer15
NM_001304718.2:c.395del	NP_001291647.1:p.Asn132IlefsTer15
NM_000314.8:c.986del MANE Select	NP_000305.3:p.Asn329IlefsTer15