Canonical Allele Identifier: CA2582343008

Gene: PTEN

Linked Data

• ClinVar Variation Id: 3231171
• ClinVar RCV Id: RCV004525242

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960921del , CM000672.2:g.87960921del	GRCh38
NC_000010.10:g.89720678del , CM000672.1:g.89720678del	GRCh37
NC_000010.9:g.89710658del	NCBI36
NG_007466.2:g.102483del , LRG_311:g.102483del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.922del	ENSP00000514759.2:p.Thr308HisfsTer14
ENST00000710265.1:c.829del	ENSP00000518161.1:p.Thr277HisfsTer14
ENST00000472832.3:c.829del	ENSP00000483066.2:p.Thr277HisfsTer14
ENST00000688158.2:n.1564del
ENST00000688922.2:c.*659del	ENSP00000508742.2:n.*659del
ENST00000700021.1:c.784del	ENSP00000514757.1:p.Thr262HisfsTer14
ENST00000700022.1:c.*168del	ENSP00000514758.1:n.*168del
ENST00000700023.1:n.1987del
ENST00000700024.1:n.2221del
ENST00000700025.1:n.1598del
ENST00000700026.1:n.466del
ENST00000700029.1:c.756del
ENST00000706954.1:c.829del	ENSP00000516674.1:p.Thr277HisfsTer14
ENST00000706955.1:c.*864del	ENSP00000516675.1:n.*864del
ENST00000686459.1:c.*415del	ENSP00000508909.1:n.*415del
ENST00000688158.1:c.*940del	ENSP00000509254.1:n.*940del
ENST00000688308.1:c.829del	ENSP00000508752.1:p.Thr277HisfsTer14
ENST00000688922.1:c.750del
ENST00000693560.1:c.1348del	ENSP00000509861.1:p.Thr450HisfsTer14
ENST00000371953.8:c.829del MANE Select	ENSP00000361021.3:p.Thr277HisfsTer14
ENST00000371953.7:c.829del	ENSP00000361021.3:p.Thr277HisfsTer14
ENST00000472832.2:c.256del	ENSP00000483066.1:p.Thr86HisfsTer14
NM_000314.5:c.829del	NP_000305.3:p.Thr277HisfsTer14
NM_000314.6:c.829del	NP_000305.3:p.Thr277HisfsTer14
NM_001304717.2:c.1348del	NP_001291646.2:p.Thr450HisfsTer14
NM_001304718.1:c.238del	NP_001291647.1:p.Thr80HisfsTer14
XM_006717926.2:c.784del	XP_006717989.1:p.Thr262HisfsTer14
XM_011539981.1:c.829del	XP_011538283.1:p.Thr277HisfsTer14
XM_011539982.1:c.733del	XP_011538284.1:p.Thr245HisfsTer14
XR_945791.1:n.1399del
NM_000314.7:c.829del	NP_000305.3:p.Thr277HisfsTer14
NM_001304717.5:c.1348del	NP_001291646.4:p.Thr450HisfsTer14
NM_001304718.2:c.238del	NP_001291647.1:p.Thr80HisfsTer14
NM_000314.8:c.829del MANE Select	NP_000305.3:p.Thr277HisfsTer14