Canonical Allele Identifier: CA000647

Gene: PTEN

Linked Data

• ClinVar Variation Id: 92836
• ClinVar RCV Id: RCV000078630 ; RCV000491886 ; RCV000801647 ; RCV003453008
• dbSNP Id: rs398123330
• COSMIC: COSM4896
• MyVariant Identifiers: chr10:g.89720805_89720808del (hg19) ; chr10:g.87961048_87961051del (hg38)
• PubMed: PMID:21194675

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961048_87961051del , CM000672.2:g.87961048_87961051del	GRCh38
NC_000010.10:g.89720805_89720808del , CM000672.1:g.89720805_89720808del	GRCh37
NC_000010.9:g.89710785_89710788del	NCBI36
NG_007466.2:g.102610_102613del , LRG_311:g.102610_102613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1049_1052del	ENSP00000514759.2:p.Thr350LysfsTer24
ENST00000710265.1:c.956_959del	ENSP00000518161.1:p.Thr319LysfsTer27
ENST00000472832.3:c.956_959del	ENSP00000483066.2:p.Thr319LysfsTer?
ENST00000688158.2:n.1691_1694del
ENST00000688922.2:c.*786_*789del	ENSP00000508742.2:n.*786_*789del
ENST00000700021.1:c.911_914del	ENSP00000514757.1:p.Thr304LysfsTer24
ENST00000700022.1:c.*295_*298del	ENSP00000514758.1:n.*295_*298del
ENST00000700023.1:n.2114_2117del
ENST00000700024.1:n.2348_2351del
ENST00000700025.1:n.1725_1728del
ENST00000700026.1:n.593_596del
ENST00000706954.1:c.956_959del	ENSP00000516674.1:p.Thr319LysfsTer24
ENST00000706955.1:c.*991_*994del	ENSP00000516675.1:n.*991_*994del
ENST00000686459.1:c.*542_*545del	ENSP00000508909.1:n.*542_*545del
ENST00000688158.1:c.*1067_*1070del	ENSP00000509254.1:n.*1067_*1070del
ENST00000688308.1:c.956_959del	ENSP00000508752.1:p.Thr319LysfsTer24
ENST00000688922.1:c.877_880del
ENST00000693560.1:c.1475_1478del	ENSP00000509861.1:p.Thr492LysfsTer24
ENST00000371953.8:c.956_959del MANE Select	ENSP00000361021.3:p.Thr319LysfsTer24
ENST00000371953.7:c.956_959del	ENSP00000361021.3:p.Thr319LysfsTer24
ENST00000472832.2:c.383_386del	ENSP00000483066.1:p.Thr128LysfsTer?
NM_000314.5:c.956_959del	NP_000305.3:p.Thr319LysfsTer24
NM_000314.6:c.956_959del	NP_000305.3:p.Thr319LysfsTer24
NM_001304717.2:c.1475_1478del	NP_001291646.2:p.Thr492LysfsTer24
NM_001304718.1:c.365_368del	NP_001291647.1:p.Thr122LysfsTer24
XM_006717926.2:c.911_914del	XP_006717989.1:p.Thr304LysfsTer24
XM_011539981.1:c.956_959del	XP_011538283.1:p.Thr319LysfsTer27
XM_011539982.1:c.860_863del	XP_011538284.1:p.Thr287LysfsTer24
XR_945791.1:n.1526_1529del
NM_000314.7:c.956_959del	NP_000305.3:p.Thr319LysfsTer24
NM_001304717.5:c.1475_1478del	NP_001291646.4:p.Thr492LysfsTer24
NM_001304718.2:c.365_368del	NP_001291647.1:p.Thr122LysfsTer24
NM_000314.8:c.956_959del MANE Select	NP_000305.3:p.Thr319LysfsTer24