Canonical Allele Identifier: CA2697558585
Community Standard Title: NM_000314.8(PTEN):c.393_394delinsAA (p.Gly132Ser)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933152_87933153delinsAA , CM000672.2:g.87933152_87933153delinsAA GRCh38
NC_000010.10:g.89692909_89692910delinsAA , CM000672.1:g.89692909_89692910delinsAA GRCh37
NC_000010.9:g.89682889_89682890delinsAA NCBI36
NG_007466.2:g.74714_74715delinsAA , LRG_311:g.74714_74715delinsAA

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.393_394delinsAA MANE Select NP_000305.3:p.Gly132Ser
ENST00000371953.8:c.393_394delinsAA MANE Select ENSP00000361021.3:p.Gly132Ser
NM_000314.5:c.393_394delinsAA NP_000305.3:p.Gly132Ser
NM_000314.6:c.393_394delinsAA NP_000305.3:p.Gly132Ser
NM_000314.7:c.393_394delinsAA NP_000305.3:p.Gly132Ser
NM_001304717.2:c.912_913delinsAA NP_001291646.2:p.Gly305Ser
NM_001304717.5:c.912_913delinsAA NP_001291646.4:p.Gly305Ser
NM_001304718.1:c.-358_-357delinsAA NP_001291647.1:n.-358_-357delinsAA
NM_001304718.2:c.-358_-357delinsAA NP_001291647.1:n.-358_-357delinsAA
ENST00000371953.7:c.393_394delinsAA ENSP00000361021.3:p.Gly132Ser
ENST00000472832.3:c.393_394delinsAA ENSP00000483066.2:p.Gly132Ser
ENST00000498703.1:n.219_220delinsAA
ENST00000610634.1:c.291_292delinsAA ENSP00000477517.1:p.Gly98Ser
ENST00000686459.1:c.393_394delinsAA ENSP00000508909.1:p.Gly132Ser
ENST00000688158.1:c.*504_*505delinsAA ENSP00000509254.1:n.*504_*505delinsAA
ENST00000688158.2:n.1128_1129delinsAA
ENST00000688308.1:c.393_394delinsAA ENSP00000508752.1:p.Gly132Ser
ENST00000688922.1:c.314_315delinsAA
ENST00000688922.2:c.*223_*224delinsAA ENSP00000508742.2:n.*223_*224delinsAA
ENST00000693560.1:c.912_913delinsAA ENSP00000509861.1:p.Gly305Ser
ENST00000700021.1:c.348_349delinsAA ENSP00000514757.1:p.Gly117Ser
ENST00000700022.1:c.393_394delinsAA ENSP00000514758.1:p.Gly132Ser
ENST00000700029.1:c.227_228delinsAA
ENST00000700029.2:c.393_394delinsAA ENSP00000514759.2:p.Gly132Ser
ENST00000706954.1:c.393_394delinsAA ENSP00000516674.1:p.Gly132Ser
ENST00000706955.1:c.*428_*429delinsAA ENSP00000516675.1:n.*428_*429delinsAA
ENST00000710265.1:c.393_394delinsAA ENSP00000518161.1:p.Gly132Ser
XM_006717926.2:c.348_349delinsAA XP_006717989.1:p.Gly117Ser
XM_011539981.1:c.393_394delinsAA XP_011538283.1:p.Gly132Ser
XM_011539982.1:c.297_298delinsAA XP_011538284.1:p.Gly100Ser
XR_945789.1:n.1105_1106delinsAA
XR_945790.1:n.1105_1106delinsAA
XR_945791.1:n.1105_1106delinsAA