Canonical Allele Identifier: CA2579927069
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87925517_87925519del , CM000672.2:g.87925517_87925519del GRCh38
NC_000010.10:g.89685274_89685276del , CM000672.1:g.89685274_89685276del GRCh37
NC_000010.9:g.89675254_89675256del NCBI36
NG_007466.2:g.67079_67081del , LRG_311:g.67079_67081del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.169_171del ENSP00000514759.2:p.Leu57del
ENST00000710265.1:c.169_171del ENSP00000518161.1:p.Leu57del
ENST00000472832.3:c.169_171del ENSP00000483066.2:p.Leu57del
ENST00000688158.2:n.904_906del
ENST00000688922.2:c.169_171del ENSP00000508742.2:p.Leu57del
ENST00000700021.1:c.165-5529_165-5527del ENSP00000514757.1:n.165-5529_165-5527del
ENST00000700022.1:c.169_171del ENSP00000514758.1:p.Leu57del
ENST00000700029.1:c.3_5del
ENST00000706954.1:c.169_171del ENSP00000516674.1:p.Leu57del
ENST00000706955.1:c.*204_*206del ENSP00000516675.1:n.*204_*206del
ENST00000686459.1:c.169_171del ENSP00000508909.1:p.Leu57del
ENST00000688158.1:c.*280_*282del ENSP00000509254.1:n.*280_*282del
ENST00000688308.1:c.169_171del ENSP00000508752.1:p.Leu57del
ENST00000688922.1:c.38_40del
ENST00000693560.1:c.688_690del ENSP00000509861.1:p.Leu230del
ENST00000371953.8:c.169_171del MANE Select ENSP00000361021.3:p.Leu57del
ENST00000371953.7:c.169_171del ENSP00000361021.3:p.Leu57del
ENST00000610634.1:c.67_69del ENSP00000477517.1:p.Leu23del
NM_000314.5:c.169_171del NP_000305.3:p.Leu57del
NM_000314.6:c.169_171del NP_000305.3:p.Leu57del
NM_001304717.2:c.688_690del NP_001291646.2:p.Leu230del
NM_001304718.1:c.-541-5529_-541-5527del NP_001291647.1:n.-541-5529_-541-5527del
XM_006717926.2:c.165-5529_165-5527del XP_006717989.1:n.165-5529_165-5527del
XM_011539981.1:c.169_171del XP_011538283.1:p.Leu57del
XM_011539982.1:c.73_75del XP_011538284.1:p.Leu25del
XR_945789.1:n.881_883del
XR_945790.1:n.881_883del
XR_945791.1:n.881_883del
NM_000314.7:c.169_171del NP_000305.3:p.Leu57del
NM_001304717.5:c.688_690del NP_001291646.4:p.Leu230del
NM_001304718.2:c.-541-5529_-541-5527del NP_001291647.1:n.-541-5529_-541-5527del
NM_000314.8:c.169_171del MANE Select NP_000305.3:p.Leu57del