Canonical Allele Identifier: CA891839343
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957864_87957866delinsCAT , CM000672.2:g.87957864_87957866delinsCAT GRCh38
NC_000010.10:g.89717621_89717623delinsCAT , CM000672.1:g.89717621_89717623delinsCAT GRCh37
NC_000010.9:g.89707601_89707603delinsCAT NCBI36
NG_007466.2:g.99426_99428delinsCAT , LRG_311:g.99426_99428delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.646_648delinsCAT ENSP00000514759.2:p.Val216His
ENST00000710265.1:c.646_648delinsCAT ENSP00000518161.1:p.Val216His
ENST00000472832.3:c.646_648delinsCAT ENSP00000483066.2:p.Val216His
ENST00000688158.2:n.1381_1383delinsCAT
ENST00000688922.2:c.*476_*478delinsCAT ENSP00000508742.2:n.*476_*478delinsCAT
ENST00000700021.1:c.601_603delinsCAT ENSP00000514757.1:p.Val201His
ENST00000700022.1:c.504_506delinsCAT ENSP00000514758.1:p.Leu168_Trp169delinsPheMet
ENST00000700023.1:n.1804_1806delinsCAT
ENST00000700024.1:n.2038_2040delinsCAT
ENST00000700025.1:n.1415_1417delinsCAT
ENST00000700026.1:n.283_285delinsCAT
ENST00000700029.1:c.480_482delinsCAT
ENST00000706954.1:c.646_648delinsCAT ENSP00000516674.1:p.Val216His
ENST00000706955.1:c.*681_*683delinsCAT ENSP00000516675.1:n.*681_*683delinsCAT
ENST00000686459.1:c.*232_*234delinsCAT ENSP00000508909.1:n.*232_*234delinsCAT
ENST00000688158.1:c.*757_*759delinsCAT ENSP00000509254.1:n.*757_*759delinsCAT
ENST00000688308.1:c.646_648delinsCAT ENSP00000508752.1:p.Val216His
ENST00000688922.1:c.567_569delinsCAT
ENST00000693560.1:c.1165_1167delinsCAT ENSP00000509861.1:p.Val389His
ENST00000371953.8:c.646_648delinsCAT MANE Select ENSP00000361021.3:p.Val216His
ENST00000371953.7:c.646_648delinsCAT ENSP00000361021.3:p.Val216His
ENST00000472832.2:c.73_75delinsCAT ENSP00000483066.1:p.Val25His
NM_000314.5:c.646_648delinsCAT NP_000305.3:p.Val216His
NM_000314.6:c.646_648delinsCAT NP_000305.3:p.Val216His
NM_001304717.2:c.1165_1167delinsCAT NP_001291646.2:p.Val389His
NM_001304718.1:c.55_57delinsCAT NP_001291647.1:p.Val19His
XM_006717926.2:c.601_603delinsCAT XP_006717989.1:p.Val201His
XM_011539981.1:c.646_648delinsCAT XP_011538283.1:p.Val216His
XM_011539982.1:c.550_552delinsCAT XP_011538284.1:p.Val184His
XR_945791.1:n.1216_1218delinsCAT
NM_000314.7:c.646_648delinsCAT NP_000305.3:p.Val216His
NM_001304717.5:c.1165_1167delinsCAT NP_001291646.4:p.Val389His
NM_001304718.2:c.55_57delinsCAT NP_001291647.1:p.Val19His
NM_000314.8:c.646_648delinsCAT MANE Select NP_000305.3:p.Val216His