Canonical Allele Identifier: CA2579926425
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965455_87965457delinsTGT , CM000672.2:g.87965455_87965457delinsTGT GRCh38
NC_000010.10:g.89725212_89725214delinsTGT , CM000672.1:g.89725212_89725214delinsTGT GRCh37
NC_000010.9:g.89715192_89715194delinsTGT NCBI36
NG_007466.2:g.107017_107019delinsTGT , LRG_311:g.107017_107019delinsTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1288_1290delinsTGT ENSP00000514759.2:p.Gln430Cys
ENST00000710265.1:c.*224_*226delinsTGT ENSP00000518161.1:n.*224_*226delinsTGT
ENST00000688158.2:n.1930_1932delinsTGT
ENST00000688922.2:c.*1025_*1027delinsTGT ENSP00000508742.2:n.*1025_*1027delinsTGT
ENST00000700021.1:c.1150_1152delinsTGT ENSP00000514757.1:p.Gln384Cys
ENST00000700022.1:c.*534_*536delinsTGT ENSP00000514758.1:n.*534_*536delinsTGT
ENST00000700023.1:n.2353_2355delinsTGT
ENST00000700024.1:n.2587_2589delinsTGT
ENST00000706954.1:c.1195_1197delinsTGT ENSP00000516674.1:p.Gln399Cys
ENST00000706955.1:c.*1230_*1232delinsTGT ENSP00000516675.1:n.*1230_*1232delinsTGT
ENST00000686459.1:c.*781_*783delinsTGT ENSP00000508909.1:n.*781_*783delinsTGT
ENST00000688158.1:c.*1306_*1308delinsTGT ENSP00000509254.1:n.*1306_*1308delinsTGT
ENST00000688308.1:c.1195_1197delinsTGT ENSP00000508752.1:p.Gln399Cys
ENST00000688922.1:c.1116_1118delinsTGT
ENST00000693560.1:c.1714_1716delinsTGT ENSP00000509861.1:p.Gln572Cys
ENST00000371953.8:c.1195_1197delinsTGT MANE Select ENSP00000361021.3:p.Gln399Cys
ENST00000371953.7:c.1195_1197delinsTGT ENSP00000361021.3:p.Gln399Cys
NM_000314.5:c.1195_1197delinsTGT NP_000305.3:p.Gln399Cys
NM_000314.6:c.1195_1197delinsTGT NP_000305.3:p.Gln399Cys
NM_001304717.2:c.1714_1716delinsTGT NP_001291646.2:p.Gln572Cys
NM_001304718.1:c.604_606delinsTGT NP_001291647.1:p.Gln202Cys
XM_006717926.2:c.1150_1152delinsTGT XP_006717989.1:p.Gln384Cys
XM_011539982.1:c.1099_1101delinsTGT XP_011538284.1:p.Gln367Cys
XR_945791.1:n.1765_1767delinsTGT
NM_000314.7:c.1195_1197delinsTGT NP_000305.3:p.Gln399Cys
NM_001304717.5:c.1714_1716delinsTGT NP_001291646.4:p.Gln572Cys
NM_001304718.2:c.604_606delinsTGT NP_001291647.1:p.Gln202Cys
NM_000314.8:c.1195_1197delinsTGT MANE Select NP_000305.3:p.Gln399Cys