Canonical Allele Identifier: CA2579926767
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958011_87958013delinsGCT , CM000672.2:g.87958011_87958013delinsGCT GRCh38
NC_000010.10:g.89717768_89717770delinsGCT , CM000672.1:g.89717768_89717770delinsGCT GRCh37
NC_000010.9:g.89707748_89707750delinsGCT NCBI36
NG_007466.2:g.99573_99575delinsGCT , LRG_311:g.99573_99575delinsGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.793_795delinsGCT ENSP00000514759.2:p.Leu265Ala
ENST00000710265.1:c.793_795delinsGCT ENSP00000518161.1:p.Leu265Ala
ENST00000472832.3:c.793_795delinsGCT ENSP00000483066.2:p.Leu265Ala
ENST00000688158.2:n.1528_1530delinsGCT
ENST00000688922.2:c.*623_*625delinsGCT ENSP00000508742.2:n.*623_*625delinsGCT
ENST00000700021.1:c.748_750delinsGCT ENSP00000514757.1:p.Leu250Ala
ENST00000700022.1:c.*132_*134delinsGCT ENSP00000514758.1:n.*132_*134delinsGCT
ENST00000700023.1:n.1951_1953delinsGCT
ENST00000700024.1:n.2185_2187delinsGCT
ENST00000700025.1:n.1562_1564delinsGCT
ENST00000700026.1:n.430_432delinsGCT
ENST00000700029.1:c.627_629delinsGCT
ENST00000706954.1:c.793_795delinsGCT ENSP00000516674.1:p.Leu265Ala
ENST00000706955.1:c.*828_*830delinsGCT ENSP00000516675.1:n.*828_*830delinsGCT
ENST00000686459.1:c.*379_*381delinsGCT ENSP00000508909.1:n.*379_*381delinsGCT
ENST00000688158.1:c.*904_*906delinsGCT ENSP00000509254.1:n.*904_*906delinsGCT
ENST00000688308.1:c.793_795delinsGCT ENSP00000508752.1:p.Leu265Ala
ENST00000688922.1:c.714_716delinsGCT
ENST00000693560.1:c.1312_1314delinsGCT ENSP00000509861.1:p.Leu438Ala
ENST00000371953.8:c.793_795delinsGCT MANE Select ENSP00000361021.3:p.Leu265Ala
ENST00000371953.7:c.793_795delinsGCT ENSP00000361021.3:p.Leu265Ala
ENST00000472832.2:c.220_222delinsGCT ENSP00000483066.1:p.Leu74Ala
NM_000314.5:c.793_795delinsGCT NP_000305.3:p.Leu265Ala
NM_000314.6:c.793_795delinsGCT NP_000305.3:p.Leu265Ala
NM_001304717.2:c.1312_1314delinsGCT NP_001291646.2:p.Leu438Ala
NM_001304718.1:c.202_204delinsGCT NP_001291647.1:p.Leu68Ala
XM_006717926.2:c.748_750delinsGCT XP_006717989.1:p.Leu250Ala
XM_011539981.1:c.793_795delinsGCT XP_011538283.1:p.Leu265Ala
XM_011539982.1:c.697_699delinsGCT XP_011538284.1:p.Leu233Ala
XR_945791.1:n.1363_1365delinsGCT
NM_000314.7:c.793_795delinsGCT NP_000305.3:p.Leu265Ala
NM_001304717.5:c.1312_1314delinsGCT NP_001291646.4:p.Leu438Ala
NM_001304718.2:c.202_204delinsGCT NP_001291647.1:p.Leu68Ala
NM_000314.8:c.793_795delinsGCT MANE Select NP_000305.3:p.Leu265Ala