Canonical Allele Identifier: CA2579926929
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933229_87933231del , CM000672.2:g.87933229_87933231del GRCh38
NC_000010.10:g.89692986_89692988del , CM000672.1:g.89692986_89692988del GRCh37
NC_000010.9:g.89682966_89682968del NCBI36
NG_007466.2:g.74791_74793del , LRG_311:g.74791_74793del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.470_472del ENSP00000514759.2:p.Glu157del
ENST00000710265.1:c.470_472del ENSP00000518161.1:p.Glu157del
ENST00000472832.3:c.470_472del ENSP00000483066.2:p.Glu157del
ENST00000688158.2:n.1205_1207del
ENST00000688922.2:c.*300_*302del ENSP00000508742.2:n.*300_*302del
ENST00000700021.1:c.425_427del ENSP00000514757.1:p.Glu142del
ENST00000700022.1:c.470_472del ENSP00000514758.1:p.Glu157del
ENST00000700029.1:c.304_306del
ENST00000706954.1:c.470_472del ENSP00000516674.1:p.Glu157del
ENST00000706955.1:c.*505_*507del ENSP00000516675.1:n.*505_*507del
ENST00000686459.1:c.470_472del ENSP00000508909.1:p.Glu157del
ENST00000688158.1:c.*581_*583del ENSP00000509254.1:n.*581_*583del
ENST00000688308.1:c.470_472del ENSP00000508752.1:p.Glu157del
ENST00000688922.1:c.391_393del
ENST00000693560.1:c.989_991del ENSP00000509861.1:p.Glu330del
ENST00000371953.8:c.470_472del MANE Select ENSP00000361021.3:p.Glu157del
ENST00000371953.7:c.470_472del ENSP00000361021.3:p.Glu157del
ENST00000498703.1:n.296_298del
ENST00000610634.1:c.368_370del ENSP00000477517.1:p.Glu123del
NM_000314.5:c.470_472del NP_000305.3:p.Glu157del
NM_000314.6:c.470_472del NP_000305.3:p.Glu157del
NM_001304717.2:c.989_991del NP_001291646.2:p.Glu330del
NM_001304718.1:c.-281_-279del NP_001291647.1:n.-281_-279del
XM_006717926.2:c.425_427del XP_006717989.1:p.Glu142del
XM_011539981.1:c.470_472del XP_011538283.1:p.Glu157del
XM_011539982.1:c.374_376del XP_011538284.1:p.Glu125del
XR_945789.1:n.1182_1184del
XR_945790.1:n.1182_1184del
XR_945791.1:n.1182_1184del
NM_000314.7:c.470_472del NP_000305.3:p.Glu157del
NM_001304717.5:c.989_991del NP_001291646.4:p.Glu330del
NM_001304718.2:c.-281_-279del NP_001291647.1:n.-281_-279del
NM_000314.8:c.470_472del MANE Select NP_000305.3:p.Glu157del