Canonical Allele Identifier: CA915947375
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 652996
ClinVar RCV Id: RCV000808678 RCV001026352
dbSNP Id: rs1589663442
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957956_87957957dup , CM000672.2:g.87957956_87957957dup GRCh38
NC_000010.10:g.89717713_89717714dup , CM000672.1:g.89717713_89717714dup GRCh37
NC_000010.9:g.89707693_89707694dup NCBI36
NG_007466.2:g.99518_99519dup , LRG_311:g.99518_99519dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.738_739dup ENSP00000514759.2:p.Leu247CysfsTer10
ENST00000710265.1:c.738_739dup ENSP00000518161.1:p.Leu247CysfsTer10
ENST00000472832.3:c.738_739dup ENSP00000483066.2:p.Leu247CysfsTer10
ENST00000688158.2:n.1473_1474dup
ENST00000688922.2:c.*568_*569dup ENSP00000508742.2:n.*568_*569dup
ENST00000700021.1:c.693_694dup ENSP00000514757.1:p.Leu232CysfsTer10
ENST00000700022.1:c.*77_*78dup ENSP00000514758.1:n.*77_*78dup
ENST00000700023.1:n.1896_1897dup
ENST00000700024.1:n.2130_2131dup
ENST00000700025.1:n.1507_1508dup
ENST00000700026.1:n.375_376dup
ENST00000700029.1:c.572_573dup
ENST00000706954.1:c.738_739dup ENSP00000516674.1:p.Leu247CysfsTer10
ENST00000706955.1:c.*773_*774dup ENSP00000516675.1:n.*773_*774dup
ENST00000686459.1:c.*324_*325dup ENSP00000508909.1:n.*324_*325dup
ENST00000688158.1:c.*849_*850dup ENSP00000509254.1:n.*849_*850dup
ENST00000688308.1:c.738_739dup ENSP00000508752.1:p.Leu247CysfsTer10
ENST00000688922.1:c.659_660dup
ENST00000693560.1:c.1257_1258dup ENSP00000509861.1:p.Leu420CysfsTer10
ENST00000371953.8:c.738_739dup MANE Select ENSP00000361021.3:p.Leu247CysfsTer10
ENST00000371953.7:c.738_739dup ENSP00000361021.3:p.Leu247CysfsTer10
ENST00000472832.2:c.165_166dup ENSP00000483066.1:p.Leu56CysfsTer10
NM_000314.5:c.738_739dup NP_000305.3:p.Leu247CysfsTer10
NM_000314.6:c.738_739dup NP_000305.3:p.Leu247CysfsTer10
NM_001304717.2:c.1257_1258dup NP_001291646.2:p.Leu420CysfsTer10
NM_001304718.1:c.147_148dup NP_001291647.1:p.Leu50CysfsTer10
XM_006717926.2:c.693_694dup XP_006717989.1:p.Leu232CysfsTer10
XM_011539981.1:c.738_739dup XP_011538283.1:p.Leu247CysfsTer10
XM_011539982.1:c.642_643dup XP_011538284.1:p.Leu215CysfsTer10
XR_945791.1:n.1308_1309dup
NM_000314.7:c.738_739dup NP_000305.3:p.Leu247CysfsTer10
NM_001304717.5:c.1257_1258dup NP_001291646.4:p.Leu420CysfsTer10
NM_001304718.2:c.147_148dup NP_001291647.1:p.Leu50CysfsTer10
NM_000314.8:c.738_739dup MANE Select NP_000305.3:p.Leu247CysfsTer10
Search 100 bp 5'
Search 100 bp 3'