Canonical Allele Identifier: CA913189638

Gene: PTEN

Linked Data

• ClinVar Variation Id: 634733
• ClinVar RCV Id: RCV000785393
• dbSNP Id: rs1564570283

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965294_87965310del , CM000672.2:g.87965294_87965310del	GRCh38
NC_000010.10:g.89725051_89725067del , CM000672.1:g.89725051_89725067del	GRCh37
NC_000010.9:g.89715031_89715047del	NCBI36
NG_007466.2:g.106856_106872del , LRG_311:g.106856_106872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1127_1143del	ENSP00000514759.2:p.Leu376ArgfsTer10
ENST00000710265.1:c.*63_*79del	ENSP00000518161.1:n.*63_*79del
ENST00000688158.2:n.1769_1785del
ENST00000688922.2:c.*864_*880del	ENSP00000508742.2:n.*864_*880del
ENST00000700021.1:c.989_1005del	ENSP00000514757.1:p.Leu330ArgfsTer10
ENST00000700022.1:c.*373_*389del	ENSP00000514758.1:n.*373_*389del
ENST00000700023.1:n.2192_2208del
ENST00000700024.1:n.2426_2442del
ENST00000706954.1:c.1034_1050del	ENSP00000516674.1:p.Leu345ArgfsTer10
ENST00000706955.1:c.*1069_*1085del	ENSP00000516675.1:n.*1069_*1085del
ENST00000686459.1:c.*620_*636del	ENSP00000508909.1:n.*620_*636del
ENST00000688158.1:c.*1145_*1161del	ENSP00000509254.1:n.*1145_*1161del
ENST00000688308.1:c.1034_1050del	ENSP00000508752.1:p.Leu345ArgfsTer10
ENST00000688922.1:c.955_971del
ENST00000693560.1:c.1553_1569del	ENSP00000509861.1:p.Leu518ArgfsTer10
ENST00000371953.8:c.1034_1050del MANE Select	ENSP00000361021.3:p.Leu345ArgfsTer10
ENST00000371953.7:c.1034_1050del	ENSP00000361021.3:p.Leu345ArgfsTer10
NM_000314.5:c.1034_1050del	NP_000305.3:p.Leu345ArgfsTer10
NM_000314.6:c.1034_1050del	NP_000305.3:p.Leu345ArgfsTer10
NM_001304717.2:c.1553_1569del	NP_001291646.2:p.Leu518ArgfsTer10
NM_001304718.1:c.443_459del	NP_001291647.1:p.Leu148ArgfsTer10
XM_006717926.2:c.989_1005del	XP_006717989.1:p.Leu330ArgfsTer10
XM_011539982.1:c.938_954del	XP_011538284.1:p.Leu313ArgfsTer10
XR_945791.1:n.1604_1620del
NM_000314.7:c.1034_1050del	NP_000305.3:p.Leu345ArgfsTer10
NM_001304717.5:c.1553_1569del	NP_001291646.4:p.Leu518ArgfsTer10
NM_001304718.2:c.443_459del	NP_001291647.1:p.Leu148ArgfsTer10
NM_000314.8:c.1034_1050del MANE Select	NP_000305.3:p.Leu345ArgfsTer10