Canonical Allele Identifier: CA645294061
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 427001
ClinVar RCV Id: RCV000489048
dbSNP Id: rs1085307891
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933030_87933031delinsTTT , CM000672.2:g.87933030_87933031delinsTTT GRCh38
NC_000010.10:g.89692787_89692788delinsTTT , CM000672.1:g.89692787_89692788delinsTTT GRCh37
NC_000010.9:g.89682767_89682768delinsTTT NCBI36
NG_007466.2:g.74592_74593delinsTTT , LRG_311:g.74592_74593delinsTTT

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.271_272delinsTTT ENSP00000514759.2:p.Glu91PhefsTer4
ENST00000710265.1:c.271_272delinsTTT ENSP00000518161.1:p.Glu91PhefsTer4
ENST00000472832.3:c.271_272delinsTTT ENSP00000483066.2:p.Glu91PhefsTer4
ENST00000688158.2:n.1006_1007delinsTTT
ENST00000688922.2:c.*101_*102delinsTTT ENSP00000508742.2:n.*101_*102delinsTTT
ENST00000700021.1:c.226_227delinsTTT ENSP00000514757.1:p.Glu76PhefsTer4
ENST00000700022.1:c.271_272delinsTTT ENSP00000514758.1:p.Glu91PhefsTer4
ENST00000700029.1:c.105_106delinsTTT
ENST00000706954.1:c.271_272delinsTTT ENSP00000516674.1:p.Glu91PhefsTer4
ENST00000706955.1:c.*306_*307delinsTTT ENSP00000516675.1:n.*306_*307delinsTTT
ENST00000686459.1:c.271_272delinsTTT ENSP00000508909.1:p.Glu91PhefsTer4
ENST00000688158.1:c.*382_*383delinsTTT ENSP00000509254.1:n.*382_*383delinsTTT
ENST00000688308.1:c.271_272delinsTTT ENSP00000508752.1:p.Glu91PhefsTer4
ENST00000688922.1:c.192_193delinsTTT
ENST00000693560.1:c.790_791delinsTTT ENSP00000509861.1:p.Glu264PhefsTer4
ENST00000371953.8:c.271_272delinsTTT MANE Select ENSP00000361021.3:p.Glu91PhefsTer4
ENST00000371953.7:c.271_272delinsTTT ENSP00000361021.3:p.Glu91PhefsTer4
ENST00000498703.1:n.97_98delinsTTT
ENST00000610634.1:c.169_170delinsTTT ENSP00000477517.1:p.Glu57PhefsTer4
NM_000314.5:c.271_272delinsTTT NP_000305.3:p.Glu91PhefsTer4
NM_000314.6:c.271_272delinsTTT NP_000305.3:p.Glu91PhefsTer4
NM_001304717.2:c.790_791delinsTTT NP_001291646.2:p.Glu264PhefsTer4
NM_001304718.1:c.-480_-479delinsTTT NP_001291647.1:n.-480_-479delinsTTT
XM_006717926.2:c.226_227delinsTTT XP_006717989.1:p.Glu76PhefsTer4
XM_011539981.1:c.271_272delinsTTT XP_011538283.1:p.Glu91PhefsTer4
XM_011539982.1:c.175_176delinsTTT XP_011538284.1:p.Glu59PhefsTer4
XR_945789.1:n.983_984delinsTTT
XR_945790.1:n.983_984delinsTTT
XR_945791.1:n.983_984delinsTTT
NM_000314.7:c.271_272delinsTTT NP_000305.3:p.Glu91PhefsTer4
NM_001304717.5:c.790_791delinsTTT NP_001291646.4:p.Glu264PhefsTer4
NM_001304718.2:c.-480_-479delinsTTT NP_001291647.1:n.-480_-479delinsTTT
NM_000314.8:c.271_272delinsTTT MANE Select NP_000305.3:p.Glu91PhefsTer4
Search 100 bp 5'
Search 100 bp 3'