Canonical Allele Identifier: CA2579926362
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965468_87965469delinsAT , CM000672.2:g.87965468_87965469delinsAT GRCh38
NC_000010.10:g.89725225_89725226delinsAT , CM000672.1:g.89725225_89725226delinsAT GRCh37
NC_000010.9:g.89715205_89715206delinsAT NCBI36
NG_007466.2:g.107030_107031delinsAT , LRG_311:g.107030_107031delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1301_1302delinsAT ENSP00000514759.2:p.Val434Asp
ENST00000710265.1:c.*237_*238delinsAT ENSP00000518161.1:n.*237_*238delinsAT
ENST00000688158.2:n.1943_1944delinsAT
ENST00000688922.2:c.*1038_*1039delinsAT ENSP00000508742.2:n.*1038_*1039delinsAT
ENST00000700021.1:c.1163_1164delinsAT ENSP00000514757.1:p.Val388Asp
ENST00000700022.1:c.*547_*548delinsAT ENSP00000514758.1:n.*547_*548delinsAT
ENST00000700023.1:n.2366_2367delinsAT
ENST00000700024.1:n.2600_2601delinsAT
ENST00000706954.1:c.1208_1209delinsAT ENSP00000516674.1:p.Val403Asp
ENST00000706955.1:c.*1243_*1244delinsAT ENSP00000516675.1:n.*1243_*1244delinsAT
ENST00000686459.1:c.*794_*795delinsAT ENSP00000508909.1:n.*794_*795delinsAT
ENST00000688158.1:c.*1319_*1320delinsAT ENSP00000509254.1:n.*1319_*1320delinsAT
ENST00000688308.1:c.1208_1209delinsAT ENSP00000508752.1:p.Val403Asp
ENST00000688922.1:c.1129_1130delinsAT
ENST00000693560.1:c.1727_1728delinsAT ENSP00000509861.1:p.Val576Asp
ENST00000371953.8:c.1208_1209delinsAT MANE Select ENSP00000361021.3:p.Val403Asp
ENST00000371953.7:c.1208_1209delinsAT ENSP00000361021.3:p.Val403Asp
NM_000314.5:c.1208_1209delinsAT NP_000305.3:p.Val403Asp
NM_000314.6:c.1208_1209delinsAT NP_000305.3:p.Val403Asp
NM_001304717.2:c.1727_1728delinsAT NP_001291646.2:p.Val576Asp
NM_001304718.1:c.617_618delinsAT NP_001291647.1:p.Val206Asp
XM_006717926.2:c.1163_1164delinsAT XP_006717989.1:p.Val388Asp
XM_011539982.1:c.1112_1113delinsAT XP_011538284.1:p.Val371Asp
XR_945791.1:n.1778_1779delinsAT
NM_000314.7:c.1208_1209delinsAT NP_000305.3:p.Val403Asp
NM_001304717.5:c.1727_1728delinsAT NP_001291646.4:p.Val576Asp
NM_001304718.2:c.617_618delinsAT NP_001291647.1:p.Val206Asp
NM_000314.8:c.1208_1209delinsAT MANE Select NP_000305.3:p.Val403Asp