Canonical Allele Identifier: CA645294062
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 427592
dbSNP Id: rs1085308050

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933179dup , CM000672.2:g.87933179dup GRCh38
NC_000010.10:g.89692936dup , CM000672.1:g.89692936dup GRCh37
NC_000010.9:g.89682916dup NCBI36
NG_007466.2:g.74741dup , LRG_311:g.74741dup

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.420dup ENSP00000514759.2:p.His141ThrfsTer?
ENST00000710265.1:c.420dup ENSP00000518161.1:p.His141ThrfsTer?
ENST00000472832.3:c.420dup ENSP00000483066.2:p.His141ThrfsTer?
ENST00000688158.2:n.1155dup
ENST00000688922.2:c.*250dup ENSP00000508742.2:n.*250dup
ENST00000700021.1:c.375dup ENSP00000514757.1:p.His126ThrfsTer?
ENST00000700022.1:c.420dup ENSP00000514758.1:p.His141ThrfsTer?
ENST00000700029.1:c.254dup
ENST00000706954.1:c.420dup ENSP00000516674.1:p.His141ThrfsTer?
ENST00000706955.1:c.*455dup ENSP00000516675.1:n.*455dup
ENST00000686459.1:c.420dup ENSP00000508909.1:p.His141ThrfsTer?
ENST00000688158.1:c.*531dup ENSP00000509254.1:n.*531dup
ENST00000688308.1:c.420dup ENSP00000508752.1:p.His141ThrfsTer?
ENST00000688922.1:c.341dup
ENST00000693560.1:c.939dup ENSP00000509861.1:p.His314ThrfsTer?
ENST00000371953.8:c.420dup MANE Select ENSP00000361021.3:p.His141ThrfsTer?
ENST00000371953.7:c.420dup ENSP00000361021.3:p.His141ThrfsTer?
ENST00000498703.1:n.246dup
ENST00000610634.1:c.318dup ENSP00000477517.1:p.His107ThrfsTer?
NM_000314.5:c.420dup NP_000305.3:p.His141ThrfsTer?
NM_000314.6:c.420dup NP_000305.3:p.His141ThrfsTer?
NM_001304717.2:c.939dup NP_001291646.2:p.His314ThrfsTer?
NM_001304718.1:c.-331dup NP_001291647.1:n.-331dup
XM_006717926.2:c.375dup XP_006717989.1:p.His126ThrfsTer?
XM_011539981.1:c.420dup XP_011538283.1:p.His141ThrfsTer?
XM_011539982.1:c.324dup XP_011538284.1:p.His109ThrfsTer?
XR_945789.1:n.1132dup
XR_945790.1:n.1132dup
XR_945791.1:n.1132dup
NM_000314.7:c.420dup NP_000305.3:p.His141ThrfsTer?
NM_001304717.5:c.939dup NP_001291646.4:p.His314ThrfsTer?
NM_001304718.2:c.-331dup NP_001291647.1:n.-331dup
NM_000314.8:c.420dup MANE Select NP_000305.3:p.His141ThrfsTer?