Canonical Allele Identifier: CA2695200967

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2673896
• ClinVar RCV Id: RCV003450513

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961082del , CM000672.2:g.87961082del	GRCh38
NC_000010.10:g.89720839del , CM000672.1:g.89720839del	GRCh37
NC_000010.9:g.89710819del	NCBI36
NG_007466.2:g.102644del , LRG_311:g.102644del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.1083del	ENSP00000514759.2:p.Asp362ThrfsTer13
ENST00000710265.1:c.990del	ENSP00000518161.1:p.Asp331ThrfsTer16
ENST00000472832.3:c.990del	ENSP00000483066.2:p.Asp331ThrfsTer?
ENST00000688158.2:n.1725del
ENST00000688922.2:c.*820del	ENSP00000508742.2:n.*820del
ENST00000700021.1:c.945del	ENSP00000514757.1:p.Asp316ThrfsTer13
ENST00000700022.1:c.*329del	ENSP00000514758.1:n.*329del
ENST00000700023.1:n.2148del
ENST00000700024.1:n.2382del
ENST00000700025.1:n.1759del
ENST00000700026.1:n.627del
ENST00000706954.1:c.990del	ENSP00000516674.1:p.Asp331ThrfsTer13
ENST00000706955.1:c.*1025del	ENSP00000516675.1:n.*1025del
ENST00000686459.1:c.*576del	ENSP00000508909.1:n.*576del
ENST00000688158.1:c.*1101del	ENSP00000509254.1:n.*1101del
ENST00000688308.1:c.990del	ENSP00000508752.1:p.Asp331ThrfsTer13
ENST00000688922.1:c.911del
ENST00000693560.1:c.1509del	ENSP00000509861.1:p.Asp504ThrfsTer13
ENST00000371953.8:c.990del MANE Select	ENSP00000361021.3:p.Asp331ThrfsTer13
ENST00000371953.7:c.990del	ENSP00000361021.3:p.Asp331ThrfsTer13
ENST00000472832.2:c.417del	ENSP00000483066.1:p.Asp140ThrfsTer?
NM_000314.5:c.990del	NP_000305.3:p.Asp331ThrfsTer13
NM_000314.6:c.990del	NP_000305.3:p.Asp331ThrfsTer13
NM_001304717.2:c.1509del	NP_001291646.2:p.Asp504ThrfsTer13
NM_001304718.1:c.399del	NP_001291647.1:p.Asp134ThrfsTer13
XM_006717926.2:c.945del	XP_006717989.1:p.Asp316ThrfsTer13
XM_011539981.1:c.990del	XP_011538283.1:p.Asp331ThrfsTer16
XM_011539982.1:c.894del	XP_011538284.1:p.Asp299ThrfsTer13
XR_945791.1:n.1560del
NM_000314.7:c.990del	NP_000305.3:p.Asp331ThrfsTer13
NM_001304717.5:c.1509del	NP_001291646.4:p.Asp504ThrfsTer13
NM_001304718.2:c.399del	NP_001291647.1:p.Asp134ThrfsTer13
NM_000314.8:c.990del MANE Select	NP_000305.3:p.Asp331ThrfsTer13