Canonical Allele Identifier: CA891836478
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961041_87961043delinsTGG , CM000672.2:g.87961041_87961043delinsTGG GRCh38
NC_000010.10:g.89720798_89720800delinsTGG , CM000672.1:g.89720798_89720800delinsTGG GRCh37
NC_000010.9:g.89710778_89710780delinsTGG NCBI36
NG_007466.2:g.102603_102605delinsTGG , LRG_311:g.102603_102605delinsTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1042_1044delinsTGG ENSP00000514759.2:p.Val348Trp
ENST00000710265.1:c.949_951delinsTGG ENSP00000518161.1:p.Val317Trp
ENST00000472832.3:c.949_951delinsTGG ENSP00000483066.2:p.Val317Trp
ENST00000688158.2:n.1684_1686delinsTGG
ENST00000688922.2:c.*779_*781delinsTGG ENSP00000508742.2:n.*779_*781delinsTGG
ENST00000700021.1:c.904_906delinsTGG ENSP00000514757.1:p.Val302Trp
ENST00000700022.1:c.*288_*290delinsTGG ENSP00000514758.1:n.*288_*290delinsTGG
ENST00000700023.1:n.2107_2109delinsTGG
ENST00000700024.1:n.2341_2343delinsTGG
ENST00000700025.1:n.1718_1720delinsTGG
ENST00000700026.1:n.586_588delinsTGG
ENST00000706954.1:c.949_951delinsTGG ENSP00000516674.1:p.Val317Trp
ENST00000706955.1:c.*984_*986delinsTGG ENSP00000516675.1:n.*984_*986delinsTGG
ENST00000686459.1:c.*535_*537delinsTGG ENSP00000508909.1:n.*535_*537delinsTGG
ENST00000688158.1:c.*1060_*1062delinsTGG ENSP00000509254.1:n.*1060_*1062delinsTGG
ENST00000688308.1:c.949_951delinsTGG ENSP00000508752.1:p.Val317Trp
ENST00000688922.1:c.870_872delinsTGG
ENST00000693560.1:c.1468_1470delinsTGG ENSP00000509861.1:p.Val490Trp
ENST00000371953.8:c.949_951delinsTGG MANE Select ENSP00000361021.3:p.Val317Trp
ENST00000371953.7:c.949_951delinsTGG ENSP00000361021.3:p.Val317Trp
ENST00000472832.2:c.376_378delinsTGG ENSP00000483066.1:p.Val126Trp
NM_000314.5:c.949_951delinsTGG NP_000305.3:p.Val317Trp
NM_000314.6:c.949_951delinsTGG NP_000305.3:p.Val317Trp
NM_001304717.2:c.1468_1470delinsTGG NP_001291646.2:p.Val490Trp
NM_001304718.1:c.358_360delinsTGG NP_001291647.1:p.Val120Trp
XM_006717926.2:c.904_906delinsTGG XP_006717989.1:p.Val302Trp
XM_011539981.1:c.949_951delinsTGG XP_011538283.1:p.Val317Trp
XM_011539982.1:c.853_855delinsTGG XP_011538284.1:p.Val285Trp
XR_945791.1:n.1519_1521delinsTGG
NM_000314.7:c.949_951delinsTGG NP_000305.3:p.Val317Trp
NM_001304717.5:c.1468_1470delinsTGG NP_001291646.4:p.Val490Trp
NM_001304718.2:c.358_360delinsTGG NP_001291647.1:p.Val120Trp
NM_000314.8:c.949_951delinsTGG MANE Select NP_000305.3:p.Val317Trp