Canonical Allele Identifier: CA1926175388
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933158_87933161delinsAATG , CM000672.2:g.87933158_87933161delinsAATG GRCh38
NC_000010.10:g.89692915_89692918delinsAATG , CM000672.1:g.89692915_89692918delinsAATG GRCh37
NC_000010.9:g.89682895_89682898delinsAATG NCBI36
NG_007466.2:g.74720_74723delinsAATG , LRG_311:g.74720_74723delinsAATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.399_402delinsAATG ENSP00000514759.2:p.Val133=
ENST00000710265.1:c.399_402delinsAATG ENSP00000518161.1:p.Val133=
ENST00000472832.3:c.399_402delinsAATG ENSP00000483066.2:p.Val133=
ENST00000688158.2:n.1134_1137delinsAATG
ENST00000688922.2:c.*229_*232delinsAATG ENSP00000508742.2:n.*229_*232delinsAATG
ENST00000700021.1:c.354_357delinsAATG ENSP00000514757.1:p.Val118=
ENST00000700022.1:c.399_402delinsAATG ENSP00000514758.1:p.Val133=
ENST00000700029.1:c.233_236delinsAATG
ENST00000706954.1:c.399_402delinsAATG ENSP00000516674.1:p.Val133=
ENST00000706955.1:c.*434_*437delinsAATG ENSP00000516675.1:n.*434_*437delinsAATG
ENST00000686459.1:c.399_402delinsAATG ENSP00000508909.1:p.Val133=
ENST00000688158.1:c.*510_*513delinsAATG ENSP00000509254.1:n.*510_*513delinsAATG
ENST00000688308.1:c.399_402delinsAATG ENSP00000508752.1:p.Val133=
ENST00000688922.1:c.320_323delinsAATG
ENST00000693560.1:c.918_921delinsAATG ENSP00000509861.1:p.Val306=
ENST00000371953.8:c.399_402delinsAATG MANE Select ENSP00000361021.3:p.Val133=
ENST00000371953.7:c.399_402delinsAATG ENSP00000361021.3:p.Val133=
ENST00000498703.1:n.225_228delinsAATG
ENST00000610634.1:c.297_300delinsAATG ENSP00000477517.1:p.Val99=
NM_000314.5:c.399_402delinsAATG NP_000305.3:p.Val133=
NM_000314.6:c.399_402delinsAATG NP_000305.3:p.Val133=
NM_001304717.2:c.918_921delinsAATG NP_001291646.2:p.Val306=
NM_001304718.1:c.-352_-349delinsAATG NP_001291647.1:n.-352_-349delinsAATG
XM_006717926.2:c.354_357delinsAATG XP_006717989.1:p.Val118=
XM_011539981.1:c.399_402delinsAATG XP_011538283.1:p.Val133=
XM_011539982.1:c.303_306delinsAATG XP_011538284.1:p.Val101=
XR_945789.1:n.1111_1114delinsAATG
XR_945790.1:n.1111_1114delinsAATG
XR_945791.1:n.1111_1114delinsAATG
NM_000314.7:c.399_402delinsAATG NP_000305.3:p.Val133=
NM_001304717.5:c.918_921delinsAATG NP_001291646.4:p.Val306=
NM_001304718.2:c.-352_-349delinsAATG NP_001291647.1:n.-352_-349delinsAATG
NM_000314.8:c.399_402delinsAATG MANE Select NP_000305.3:p.Val133=