Canonical Allele Identifier: CA891839318
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957858_87957860delinsGAA , CM000672.2:g.87957858_87957860delinsGAA GRCh38
NC_000010.10:g.89717615_89717617delinsGAA , CM000672.1:g.89717615_89717617delinsGAA GRCh37
NC_000010.9:g.89707595_89707597delinsGAA NCBI36
NG_007466.2:g.99420_99422delinsGAA , LRG_311:g.99420_99422delinsGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.640_642delinsGAA ENSP00000514759.2:p.Gln214Glu
ENST00000710265.1:c.640_642delinsGAA ENSP00000518161.1:p.Gln214Glu
ENST00000472832.3:c.640_642delinsGAA ENSP00000483066.2:p.Gln214Glu
ENST00000688158.2:n.1375_1377delinsGAA
ENST00000688922.2:c.*470_*472delinsGAA ENSP00000508742.2:n.*470_*472delinsGAA
ENST00000700021.1:c.595_597delinsGAA ENSP00000514757.1:p.Gln199Glu
ENST00000700022.1:c.498_500delinsGAA ENSP00000514758.1:p.Ser167Asn
ENST00000700023.1:n.1798_1800delinsGAA
ENST00000700024.1:n.2032_2034delinsGAA
ENST00000700025.1:n.1409_1411delinsGAA
ENST00000700026.1:n.277_279delinsGAA
ENST00000700029.1:c.474_476delinsGAA
ENST00000706954.1:c.640_642delinsGAA ENSP00000516674.1:p.Gln214Glu
ENST00000706955.1:c.*675_*677delinsGAA ENSP00000516675.1:n.*675_*677delinsGAA
ENST00000686459.1:c.*226_*228delinsGAA ENSP00000508909.1:n.*226_*228delinsGAA
ENST00000688158.1:c.*751_*753delinsGAA ENSP00000509254.1:n.*751_*753delinsGAA
ENST00000688308.1:c.640_642delinsGAA ENSP00000508752.1:p.Gln214Glu
ENST00000688922.1:c.561_563delinsGAA
ENST00000693560.1:c.1159_1161delinsGAA ENSP00000509861.1:p.Gln387Glu
ENST00000371953.8:c.640_642delinsGAA MANE Select ENSP00000361021.3:p.Gln214Glu
ENST00000371953.7:c.640_642delinsGAA ENSP00000361021.3:p.Gln214Glu
ENST00000472832.2:c.67_69delinsGAA ENSP00000483066.1:p.Gln23Glu
NM_000314.5:c.640_642delinsGAA NP_000305.3:p.Gln214Glu
NM_000314.6:c.640_642delinsGAA NP_000305.3:p.Gln214Glu
NM_001304717.2:c.1159_1161delinsGAA NP_001291646.2:p.Gln387Glu
NM_001304718.1:c.49_51delinsGAA NP_001291647.1:p.Gln17Glu
XM_006717926.2:c.595_597delinsGAA XP_006717989.1:p.Gln199Glu
XM_011539981.1:c.640_642delinsGAA XP_011538283.1:p.Gln214Glu
XM_011539982.1:c.544_546delinsGAA XP_011538284.1:p.Gln182Glu
XR_945791.1:n.1210_1212delinsGAA
NM_000314.7:c.640_642delinsGAA NP_000305.3:p.Gln214Glu
NM_001304717.5:c.1159_1161delinsGAA NP_001291646.4:p.Gln387Glu
NM_001304718.2:c.49_51delinsGAA NP_001291647.1:p.Gln17Glu
NM_000314.8:c.640_642delinsGAA MANE Select NP_000305.3:p.Gln214Glu