Canonical Allele Identifier: CA891835043
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87894070_87894071delinsCA , CM000672.2:g.87894070_87894071delinsCA GRCh38
NC_000010.10:g.89653827_89653828delinsCA , CM000672.1:g.89653827_89653828delinsCA GRCh37
NC_000010.9:g.89643807_89643808delinsCA NCBI36
NG_007466.2:g.35632_35633delinsCA , LRG_311:g.35632_35633delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.125_126delinsCA ENSP00000514759.2:p.Leu42Pro
ENST00000710265.1:c.125_126delinsCA ENSP00000518161.1:p.Leu42Pro
ENST00000472832.3:c.125_126delinsCA ENSP00000483066.2:p.Leu42Pro
ENST00000688158.2:n.899+13632_899+13633delinsCA
ENST00000688922.2:c.125_126delinsCA ENSP00000508742.2:p.Leu42Pro
ENST00000700021.1:c.125_126delinsCA ENSP00000514757.1:p.Leu42Pro
ENST00000700022.1:c.125_126delinsCA ENSP00000514758.1:p.Leu42Pro
ENST00000706954.1:c.125_126delinsCA ENSP00000516674.1:p.Leu42Pro
ENST00000706955.1:c.*160_*161delinsCA ENSP00000516675.1:n.*160_*161delinsCA
ENST00000686459.1:c.125_126delinsCA ENSP00000508909.1:p.Leu42Pro
ENST00000688158.1:c.*275+13632_*275+13633delinsCA ENSP00000509254.1:n.*275+13632_*275+13633delinsCA
ENST00000688308.1:c.125_126delinsCA ENSP00000508752.1:p.Leu42Pro
ENST00000693560.1:c.644_645delinsCA ENSP00000509861.1:p.Leu215Pro
ENST00000371953.8:c.125_126delinsCA MANE Select ENSP00000361021.3:p.Leu42Pro
ENST00000371953.7:c.125_126delinsCA ENSP00000361021.3:p.Leu42Pro
ENST00000462694.1:n.127_128delinsCA
ENST00000610634.1:c.23_24delinsCA ENSP00000477517.1:p.Leu8Pro
NM_000314.5:c.125_126delinsCA NP_000305.3:p.Leu42Pro
NM_000314.6:c.125_126delinsCA NP_000305.3:p.Leu42Pro
NM_001304717.2:c.644_645delinsCA NP_001291646.2:p.Leu215Pro
NM_001304718.1:c.-581_-580delinsCA NP_001291647.1:n.-581_-580delinsCA
XM_006717926.2:c.125_126delinsCA XP_006717989.1:p.Leu42Pro
XM_011539981.1:c.125_126delinsCA XP_011538283.1:p.Leu42Pro
XM_011539982.1:c.68+13632_68+13633delinsCA XP_011538284.1:n.68+13632_68+13633delinsCA
XR_945789.1:n.837_838delinsCA
XR_945790.1:n.837_838delinsCA
XR_945791.1:n.837_838delinsCA
NM_000314.7:c.125_126delinsCA NP_000305.3:p.Leu42Pro
NM_001304717.5:c.644_645delinsCA NP_001291646.4:p.Leu215Pro
NM_001304718.2:c.-581_-580delinsCA NP_001291647.1:n.-581_-580delinsCA
NM_000314.8:c.125_126delinsCA MANE Select NP_000305.3:p.Leu42Pro