Canonical Allele Identifier: CA2579926514
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965297_87965298delinsTG , CM000672.2:g.87965297_87965298delinsTG GRCh38
NC_000010.10:g.89725054_89725055delinsTG , CM000672.1:g.89725054_89725055delinsTG GRCh37
NC_000010.9:g.89715034_89715035delinsTG NCBI36
NG_007466.2:g.106859_106860delinsTG , LRG_311:g.106859_106860delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1130_1131delinsTG ENSP00000514759.2:p.Tyr377Leu
ENST00000710265.1:c.*66_*67delinsTG ENSP00000518161.1:n.*66_*67delinsTG
ENST00000688158.2:n.1772_1773delinsTG
ENST00000688922.2:c.*867_*868delinsTG ENSP00000508742.2:n.*867_*868delinsTG
ENST00000700021.1:c.992_993delinsTG ENSP00000514757.1:p.Tyr331Leu
ENST00000700022.1:c.*376_*377delinsTG ENSP00000514758.1:n.*376_*377delinsTG
ENST00000700023.1:n.2195_2196delinsTG
ENST00000700024.1:n.2429_2430delinsTG
ENST00000706954.1:c.1037_1038delinsTG ENSP00000516674.1:p.Tyr346Leu
ENST00000706955.1:c.*1072_*1073delinsTG ENSP00000516675.1:n.*1072_*1073delinsTG
ENST00000686459.1:c.*623_*624delinsTG ENSP00000508909.1:n.*623_*624delinsTG
ENST00000688158.1:c.*1148_*1149delinsTG ENSP00000509254.1:n.*1148_*1149delinsTG
ENST00000688308.1:c.1037_1038delinsTG ENSP00000508752.1:p.Tyr346Leu
ENST00000688922.1:c.958_959delinsTG
ENST00000693560.1:c.1556_1557delinsTG ENSP00000509861.1:p.Tyr519Leu
ENST00000371953.8:c.1037_1038delinsTG MANE Select ENSP00000361021.3:p.Tyr346Leu
ENST00000371953.7:c.1037_1038delinsTG ENSP00000361021.3:p.Tyr346Leu
NM_000314.5:c.1037_1038delinsTG NP_000305.3:p.Tyr346Leu
NM_000314.6:c.1037_1038delinsTG NP_000305.3:p.Tyr346Leu
NM_001304717.2:c.1556_1557delinsTG NP_001291646.2:p.Tyr519Leu
NM_001304718.1:c.446_447delinsTG NP_001291647.1:p.Tyr149Leu
XM_006717926.2:c.992_993delinsTG XP_006717989.1:p.Tyr331Leu
XM_011539982.1:c.941_942delinsTG XP_011538284.1:p.Tyr314Leu
XR_945791.1:n.1607_1608delinsTG
NM_000314.7:c.1037_1038delinsTG NP_000305.3:p.Tyr346Leu
NM_001304717.5:c.1556_1557delinsTG NP_001291646.4:p.Tyr519Leu
NM_001304718.2:c.446_447delinsTG NP_001291647.1:p.Tyr149Leu
NM_000314.8:c.1037_1038delinsTG MANE Select NP_000305.3:p.Tyr346Leu