Canonical Allele Identifier: CA2579986093
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933136_87933138del , CM000672.2:g.87933136_87933138del GRCh38
NC_000010.10:g.89692893_89692895del , CM000672.1:g.89692893_89692895del GRCh37
NC_000010.9:g.89682873_89682875del NCBI36
NG_007466.2:g.74698_74700del , LRG_311:g.74698_74700del

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.377_379del ENSP00000514759.2:p.Ala126del
ENST00000710265.1:c.377_379del ENSP00000518161.1:p.Ala126del
ENST00000472832.3:c.377_379del ENSP00000483066.2:p.Ala126del
ENST00000688158.2:n.1112_1114del
ENST00000688922.2:c.*207_*209del ENSP00000508742.2:n.*207_*209del
ENST00000700021.1:c.332_334del ENSP00000514757.1:p.Ala111del
ENST00000700022.1:c.377_379del ENSP00000514758.1:p.Ala126del
ENST00000700029.1:c.211_213del
ENST00000706954.1:c.377_379del ENSP00000516674.1:p.Ala126del
ENST00000706955.1:c.*412_*414del ENSP00000516675.1:n.*412_*414del
ENST00000686459.1:c.377_379del ENSP00000508909.1:p.Ala126del
ENST00000688158.1:c.*488_*490del ENSP00000509254.1:n.*488_*490del
ENST00000688308.1:c.377_379del ENSP00000508752.1:p.Ala126del
ENST00000688922.1:c.298_300del
ENST00000693560.1:c.896_898del ENSP00000509861.1:p.Ala299del
ENST00000371953.8:c.377_379del MANE Select ENSP00000361021.3:p.Ala126del
ENST00000371953.7:c.377_379del ENSP00000361021.3:p.Ala126del
ENST00000498703.1:n.203_205del
ENST00000610634.1:c.275_277del ENSP00000477517.1:p.Ala92del
NM_000314.5:c.377_379del NP_000305.3:p.Ala126del
NM_000314.6:c.377_379del NP_000305.3:p.Ala126del
NM_001304717.2:c.896_898del NP_001291646.2:p.Ala299del
NM_001304718.1:c.-374_-372del NP_001291647.1:n.-374_-372del
XM_006717926.2:c.332_334del XP_006717989.1:p.Ala111del
XM_011539981.1:c.377_379del XP_011538283.1:p.Ala126del
XM_011539982.1:c.281_283del XP_011538284.1:p.Ala94del
XR_945789.1:n.1089_1091del
XR_945790.1:n.1089_1091del
XR_945791.1:n.1089_1091del
NM_000314.7:c.377_379del NP_000305.3:p.Ala126del
NM_001304717.5:c.896_898del NP_001291646.4:p.Ala299del
NM_001304718.2:c.-374_-372del NP_001291647.1:n.-374_-372del
NM_000314.8:c.377_379del MANE Select NP_000305.3:p.Ala126del