Canonical Allele Identifier: CA2697558582

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2687578
• ClinVar RCV Id: RCV003484327

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933146_87933186del , CM000672.2:g.87933146_87933186del	GRCh38
NC_000010.10:g.89692903_89692943del , CM000672.1:g.89692903_89692943del	GRCh37
NC_000010.9:g.89682883_89682923del	NCBI36
NG_007466.2:g.74708_74748del , LRG_311:g.74708_74748del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.387_427del	ENSP00000514759.2:p.Arg130GlnfsTer?
ENST00000710265.1:c.387_427del	ENSP00000518161.1:p.Arg130GlnfsTer?
ENST00000472832.3:c.387_427del	ENSP00000483066.2:p.Arg130GlnfsTer?
ENST00000688158.2:n.1122_1162del
ENST00000688922.2:c.*217_*257del	ENSP00000508742.2:n.*217_*257del
ENST00000700021.1:c.342_382del	ENSP00000514757.1:p.Arg115GlnfsTer?
ENST00000700022.1:c.387_427del	ENSP00000514758.1:p.Arg130GlnfsTer?
ENST00000700029.1:c.221_261del
ENST00000706954.1:c.387_427del	ENSP00000516674.1:p.Arg130GlnfsTer?
ENST00000706955.1:c.*422_*462del	ENSP00000516675.1:n.*422_*462del
ENST00000686459.1:c.387_427del	ENSP00000508909.1:p.Arg130GlnfsTer?
ENST00000688158.1:c.*498_*538del	ENSP00000509254.1:n.*498_*538del
ENST00000688308.1:c.387_427del	ENSP00000508752.1:p.Arg130GlnfsTer?
ENST00000688922.1:c.308_348del
ENST00000693560.1:c.906_946del	ENSP00000509861.1:p.Arg303GlnfsTer?
ENST00000371953.8:c.387_427del MANE Select	ENSP00000361021.3:p.Arg130GlnfsTer?
ENST00000371953.7:c.387_427del	ENSP00000361021.3:p.Arg130GlnfsTer?
ENST00000498703.1:n.213_253del
ENST00000610634.1:c.285_325del	ENSP00000477517.1:p.Arg96GlnfsTer?
NM_000314.5:c.387_427del	NP_000305.3:p.Arg130GlnfsTer?
NM_000314.6:c.387_427del	NP_000305.3:p.Arg130GlnfsTer?
NM_001304717.2:c.906_946del	NP_001291646.2:p.Arg303GlnfsTer?
NM_001304718.1:c.-364_-324del	NP_001291647.1:n.-364_-324del
XM_006717926.2:c.342_382del	XP_006717989.1:p.Arg115GlnfsTer?
XM_011539981.1:c.387_427del	XP_011538283.1:p.Arg130GlnfsTer?
XM_011539982.1:c.291_331del	XP_011538284.1:p.Arg98GlnfsTer?
XR_945789.1:n.1099_1139del
XR_945790.1:n.1099_1139del
XR_945791.1:n.1099_1139del
NM_000314.7:c.387_427del	NP_000305.3:p.Arg130GlnfsTer?
NM_001304717.5:c.906_946del	NP_001291646.4:p.Arg303GlnfsTer?
NM_001304718.2:c.-364_-324del	NP_001291647.1:n.-364_-324del
NM_000314.8:c.387_427del MANE Select	NP_000305.3:p.Arg130GlnfsTer?