Canonical Allele Identifier: CA2697558639
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2752670
ClinVar RCV Id: RCV003509946
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957976_87957998dup , CM000672.2:g.87957976_87957998dup GRCh38
NC_000010.10:g.89717733_89717755dup , CM000672.1:g.89717733_89717755dup GRCh37
NC_000010.9:g.89707713_89707735dup NCBI36
NG_007466.2:g.99538_99560dup , LRG_311:g.99538_99560dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.758_780dup ENSP00000514759.2:p.Gln261SerfsTer3
ENST00000710265.1:c.758_780dup ENSP00000518161.1:p.Gln261SerfsTer3
ENST00000472832.3:c.758_780dup ENSP00000483066.2:p.Gln261SerfsTer3
ENST00000688158.2:n.1493_1515dup
ENST00000688922.2:c.*588_*610dup ENSP00000508742.2:n.*588_*610dup
ENST00000700021.1:c.713_735dup ENSP00000514757.1:p.Gln246SerfsTer3
ENST00000700022.1:c.*97_*119dup ENSP00000514758.1:n.*97_*119dup
ENST00000700023.1:n.1916_1938dup
ENST00000700024.1:n.2150_2172dup
ENST00000700025.1:n.1527_1549dup
ENST00000700026.1:n.395_417dup
ENST00000700029.1:c.592_614dup
ENST00000706954.1:c.758_780dup ENSP00000516674.1:p.Gln261SerfsTer3
ENST00000706955.1:c.*793_*815dup ENSP00000516675.1:n.*793_*815dup
ENST00000686459.1:c.*344_*366dup ENSP00000508909.1:n.*344_*366dup
ENST00000688158.1:c.*869_*891dup ENSP00000509254.1:n.*869_*891dup
ENST00000688308.1:c.758_780dup ENSP00000508752.1:p.Gln261SerfsTer3
ENST00000688922.1:c.679_701dup
ENST00000693560.1:c.1277_1299dup ENSP00000509861.1:p.Gln434SerfsTer3
ENST00000371953.8:c.758_780dup MANE Select ENSP00000361021.3:p.Gln261SerfsTer3
ENST00000371953.7:c.758_780dup ENSP00000361021.3:p.Gln261SerfsTer3
ENST00000472832.2:c.185_207dup ENSP00000483066.1:p.Gln70SerfsTer3
NM_000314.5:c.758_780dup NP_000305.3:p.Gln261SerfsTer3
NM_000314.6:c.758_780dup NP_000305.3:p.Gln261SerfsTer3
NM_001304717.2:c.1277_1299dup NP_001291646.2:p.Gln434SerfsTer3
NM_001304718.1:c.167_189dup NP_001291647.1:p.Gln64SerfsTer3
XM_006717926.2:c.713_735dup XP_006717989.1:p.Gln246SerfsTer3
XM_011539981.1:c.758_780dup XP_011538283.1:p.Gln261SerfsTer3
XM_011539982.1:c.662_684dup XP_011538284.1:p.Gln229SerfsTer3
XR_945791.1:n.1328_1350dup
NM_000314.7:c.758_780dup NP_000305.3:p.Gln261SerfsTer3
NM_001304717.5:c.1277_1299dup NP_001291646.4:p.Gln434SerfsTer3
NM_001304718.2:c.167_189dup NP_001291647.1:p.Gln64SerfsTer3
NM_000314.8:c.758_780dup MANE Select NP_000305.3:p.Gln261SerfsTer3
Search 100 bp 5'
Search 100 bp 3'