Canonical Allele Identifier: CA2579986052
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957874_87957876del , CM000672.2:g.87957874_87957876del GRCh38
NC_000010.10:g.89717631_89717633del , CM000672.1:g.89717631_89717633del GRCh37
NC_000010.9:g.89707611_89707613del NCBI36
NG_007466.2:g.99436_99438del , LRG_311:g.99436_99438del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.656_658del ENSP00000514759.2:p.Gln219del
ENST00000710265.1:c.656_658del ENSP00000518161.1:p.Gln219del
ENST00000472832.3:c.656_658del ENSP00000483066.2:p.Gln219del
ENST00000688158.2:n.1391_1393del
ENST00000688922.2:c.*486_*488del ENSP00000508742.2:n.*486_*488del
ENST00000700021.1:c.611_613del ENSP00000514757.1:p.Gln204del
ENST00000700022.1:c.514_516del ENSP00000514758.1:p.Ser172del
ENST00000700023.1:n.1814_1816del
ENST00000700024.1:n.2048_2050del
ENST00000700025.1:n.1425_1427del
ENST00000700026.1:n.293_295del
ENST00000700029.1:c.490_492del
ENST00000706954.1:c.656_658del ENSP00000516674.1:p.Gln219del
ENST00000706955.1:c.*691_*693del ENSP00000516675.1:n.*691_*693del
ENST00000686459.1:c.*242_*244del ENSP00000508909.1:n.*242_*244del
ENST00000688158.1:c.*767_*769del ENSP00000509254.1:n.*767_*769del
ENST00000688308.1:c.656_658del ENSP00000508752.1:p.Gln219del
ENST00000688922.1:c.577_579del
ENST00000693560.1:c.1175_1177del ENSP00000509861.1:p.Gln392del
ENST00000371953.8:c.656_658del MANE Select ENSP00000361021.3:p.Gln219del
ENST00000371953.7:c.656_658del ENSP00000361021.3:p.Gln219del
ENST00000472832.2:c.83_85del ENSP00000483066.1:p.Gln28del
NM_000314.5:c.656_658del NP_000305.3:p.Gln219del
NM_000314.6:c.656_658del NP_000305.3:p.Gln219del
NM_001304717.2:c.1175_1177del NP_001291646.2:p.Gln392del
NM_001304718.1:c.65_67del NP_001291647.1:p.Gln22del
XM_006717926.2:c.611_613del XP_006717989.1:p.Gln204del
XM_011539981.1:c.656_658del XP_011538283.1:p.Gln219del
XM_011539982.1:c.560_562del XP_011538284.1:p.Gln187del
XR_945791.1:n.1226_1228del
NM_000314.7:c.656_658del NP_000305.3:p.Gln219del
NM_001304717.5:c.1175_1177del NP_001291646.4:p.Gln392del
NM_001304718.2:c.65_67del NP_001291647.1:p.Gln22del
NM_000314.8:c.656_658del MANE Select NP_000305.3:p.Gln219del