Canonical Allele Identifier: CA891842079
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957956_87957961dup , CM000672.2:g.87957956_87957961dup GRCh38
NC_000010.10:g.89717713_89717718dup , CM000672.1:g.89717713_89717718dup GRCh37
NC_000010.9:g.89707693_89707698dup NCBI36
NG_007466.2:g.99518_99523dup , LRG_311:g.99518_99523dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.738_743dup ENSP00000514759.2:p.Pro248_Val249insLeuPro
ENST00000710265.1:c.738_743dup ENSP00000518161.1:p.Pro248_Val249insLeuPro
ENST00000472832.3:c.738_743dup ENSP00000483066.2:p.Pro248_Val249insLeuPro
ENST00000688158.2:n.1473_1478dup
ENST00000688922.2:c.*568_*573dup ENSP00000508742.2:n.*568_*573dup
ENST00000700021.1:c.693_698dup ENSP00000514757.1:p.Pro233_Val234insLeuPro
ENST00000700022.1:c.*77_*82dup ENSP00000514758.1:n.*77_*82dup
ENST00000700023.1:n.1896_1901dup
ENST00000700024.1:n.2130_2135dup
ENST00000700025.1:n.1507_1512dup
ENST00000700026.1:n.375_380dup
ENST00000700029.1:c.572_577dup
ENST00000706954.1:c.738_743dup ENSP00000516674.1:p.Pro248_Val249insLeuPro
ENST00000706955.1:c.*773_*778dup ENSP00000516675.1:n.*773_*778dup
ENST00000686459.1:c.*324_*329dup ENSP00000508909.1:n.*324_*329dup
ENST00000688158.1:c.*849_*854dup ENSP00000509254.1:n.*849_*854dup
ENST00000688308.1:c.738_743dup ENSP00000508752.1:p.Pro248_Val249insLeuPro
ENST00000688922.1:c.659_664dup
ENST00000693560.1:c.1257_1262dup ENSP00000509861.1:p.Pro421_Val422insLeuPro
ENST00000371953.8:c.738_743dup MANE Select ENSP00000361021.3:p.Pro248_Val249insLeuPro
ENST00000371953.7:c.738_743dup ENSP00000361021.3:p.Pro248_Val249insLeuPro
ENST00000472832.2:c.165_170dup ENSP00000483066.1:p.Pro57_Val58insLeuPro
NM_000314.5:c.738_743dup NP_000305.3:p.Pro248_Val249insLeuPro
NM_000314.6:c.738_743dup NP_000305.3:p.Pro248_Val249insLeuPro
NM_001304717.2:c.1257_1262dup NP_001291646.2:p.Pro421_Val422insLeuPro
NM_001304718.1:c.147_152dup NP_001291647.1:p.Pro51_Val52insLeuPro
XM_006717926.2:c.693_698dup XP_006717989.1:p.Pro233_Val234insLeuPro
XM_011539981.1:c.738_743dup XP_011538283.1:p.Pro248_Val249insLeuPro
XM_011539982.1:c.642_647dup XP_011538284.1:p.Pro216_Val217insLeuPro
XR_945791.1:n.1308_1313dup
NM_000314.7:c.738_743dup NP_000305.3:p.Pro248_Val249insLeuPro
NM_001304717.5:c.1257_1262dup NP_001291646.4:p.Pro421_Val422insLeuPro
NM_001304718.2:c.147_152dup NP_001291647.1:p.Pro51_Val52insLeuPro
NM_000314.8:c.738_743dup MANE Select NP_000305.3:p.Pro248_Val249insLeuPro