Canonical Allele Identifier: CA891835038
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87894069_87894070delinsTA , CM000672.2:g.87894069_87894070delinsTA GRCh38
NC_000010.10:g.89653826_89653827delinsTA , CM000672.1:g.89653826_89653827delinsTA GRCh37
NC_000010.9:g.89643806_89643807delinsTA NCBI36
NG_007466.2:g.35631_35632delinsTA , LRG_311:g.35631_35632delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.124_125delinsTA ENSP00000514759.2:p.Leu42Tyr
ENST00000710265.1:c.124_125delinsTA ENSP00000518161.1:p.Leu42Tyr
ENST00000472832.3:c.124_125delinsTA ENSP00000483066.2:p.Leu42Tyr
ENST00000688158.2:n.899+13631_899+13632delinsTA
ENST00000688922.2:c.124_125delinsTA ENSP00000508742.2:p.Leu42Tyr
ENST00000700021.1:c.124_125delinsTA ENSP00000514757.1:p.Leu42Tyr
ENST00000700022.1:c.124_125delinsTA ENSP00000514758.1:p.Leu42Tyr
ENST00000706954.1:c.124_125delinsTA ENSP00000516674.1:p.Leu42Tyr
ENST00000706955.1:c.*159_*160delinsTA ENSP00000516675.1:n.*159_*160delinsTA
ENST00000686459.1:c.124_125delinsTA ENSP00000508909.1:p.Leu42Tyr
ENST00000688158.1:c.*275+13631_*275+13632delinsTA ENSP00000509254.1:n.*275+13631_*275+13632delinsTA
ENST00000688308.1:c.124_125delinsTA ENSP00000508752.1:p.Leu42Tyr
ENST00000693560.1:c.643_644delinsTA ENSP00000509861.1:p.Leu215Tyr
ENST00000371953.8:c.124_125delinsTA MANE Select ENSP00000361021.3:p.Leu42Tyr
ENST00000371953.7:c.124_125delinsTA ENSP00000361021.3:p.Leu42Tyr
ENST00000462694.1:n.126_127delinsTA
ENST00000610634.1:c.22_23delinsTA ENSP00000477517.1:p.Leu8Tyr
NM_000314.5:c.124_125delinsTA NP_000305.3:p.Leu42Tyr
NM_000314.6:c.124_125delinsTA NP_000305.3:p.Leu42Tyr
NM_001304717.2:c.643_644delinsTA NP_001291646.2:p.Leu215Tyr
NM_001304718.1:c.-582_-581delinsTA NP_001291647.1:n.-582_-581delinsTA
XM_006717926.2:c.124_125delinsTA XP_006717989.1:p.Leu42Tyr
XM_011539981.1:c.124_125delinsTA XP_011538283.1:p.Leu42Tyr
XM_011539982.1:c.68+13631_68+13632delinsTA XP_011538284.1:n.68+13631_68+13632delinsTA
XR_945789.1:n.836_837delinsTA
XR_945790.1:n.836_837delinsTA
XR_945791.1:n.836_837delinsTA
NM_000314.7:c.124_125delinsTA NP_000305.3:p.Leu42Tyr
NM_001304717.5:c.643_644delinsTA NP_001291646.4:p.Leu215Tyr
NM_001304718.2:c.-582_-581delinsTA NP_001291647.1:n.-582_-581delinsTA
NM_000314.8:c.124_125delinsTA MANE Select NP_000305.3:p.Leu42Tyr