Canonical Allele Identifier: CA2579927119
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87925538_87925540del , CM000672.2:g.87925538_87925540del GRCh38
NC_000010.10:g.89685295_89685297del , CM000672.1:g.89685295_89685297del GRCh37
NC_000010.9:g.89675275_89675277del NCBI36
NG_007466.2:g.67100_67102del , LRG_311:g.67100_67102del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.190_192del ENSP00000514759.2:p.His64del
ENST00000710265.1:c.190_192del ENSP00000518161.1:p.His64del
ENST00000472832.3:c.190_192del ENSP00000483066.2:p.His64del
ENST00000688158.2:n.925_927del
ENST00000688922.2:c.190_192del ENSP00000508742.2:p.His64del
ENST00000700021.1:c.165-5508_165-5506del ENSP00000514757.1:n.165-5508_165-5506del
ENST00000700022.1:c.190_192del ENSP00000514758.1:p.His64del
ENST00000700029.1:c.24_26del
ENST00000706954.1:c.190_192del ENSP00000516674.1:p.His64del
ENST00000706955.1:c.*225_*227del ENSP00000516675.1:n.*225_*227del
ENST00000686459.1:c.190_192del ENSP00000508909.1:p.His64del
ENST00000688158.1:c.*301_*303del ENSP00000509254.1:n.*301_*303del
ENST00000688308.1:c.190_192del ENSP00000508752.1:p.His64del
ENST00000688922.1:c.59_61del
ENST00000693560.1:c.709_711del ENSP00000509861.1:p.His237del
ENST00000371953.8:c.190_192del MANE Select ENSP00000361021.3:p.His64del
ENST00000371953.7:c.190_192del ENSP00000361021.3:p.His64del
ENST00000498703.1:n.16_18del
ENST00000610634.1:c.88_90del ENSP00000477517.1:p.His30del
NM_000314.5:c.190_192del NP_000305.3:p.His64del
NM_000314.6:c.190_192del NP_000305.3:p.His64del
NM_001304717.2:c.709_711del NP_001291646.2:p.His237del
NM_001304718.1:c.-541-5508_-541-5506del NP_001291647.1:n.-541-5508_-541-5506del
XM_006717926.2:c.165-5508_165-5506del XP_006717989.1:n.165-5508_165-5506del
XM_011539981.1:c.190_192del XP_011538283.1:p.His64del
XM_011539982.1:c.94_96del XP_011538284.1:p.His32del
XR_945789.1:n.902_904del
XR_945790.1:n.902_904del
XR_945791.1:n.902_904del
NM_000314.7:c.190_192del NP_000305.3:p.His64del
NM_001304717.5:c.709_711del NP_001291646.4:p.His237del
NM_001304718.2:c.-541-5508_-541-5506del NP_001291647.1:n.-541-5508_-541-5506del
NM_000314.8:c.190_192del MANE Select NP_000305.3:p.His64del