Canonical Allele Identifier: CA2695200989

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2674354
• ClinVar RCV Id: RCV003452550 ; RCV003509828

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933129_87933204dup , CM000672.2:g.87933129_87933204dup	GRCh38
NC_000010.10:g.89692886_89692961dup , CM000672.1:g.89692886_89692961dup	GRCh37
NC_000010.9:g.89682866_89682941dup	NCBI36
NG_007466.2:g.74691_74766dup , LRG_311:g.74691_74766dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.370_445dup	ENSP00000514759.2:p.Gln149LeufsTer2
ENST00000710265.1:c.370_445dup	ENSP00000518161.1:p.Gln149LeufsTer2
ENST00000472832.3:c.370_445dup	ENSP00000483066.2:p.Gln149LeufsTer2
ENST00000688158.2:n.1105_1180dup
ENST00000688922.2:c.*200_*275dup	ENSP00000508742.2:n.*200_*275dup
ENST00000700021.1:c.325_400dup	ENSP00000514757.1:p.Gln134LeufsTer2
ENST00000700022.1:c.370_445dup	ENSP00000514758.1:p.Gln149LeufsTer2
ENST00000700029.1:c.204_279dup
ENST00000706954.1:c.370_445dup	ENSP00000516674.1:p.Gln149LeufsTer2
ENST00000706955.1:c.*405_*480dup	ENSP00000516675.1:n.*405_*480dup
ENST00000686459.1:c.370_445dup	ENSP00000508909.1:p.Gln149LeufsTer2
ENST00000688158.1:c.*481_*556dup	ENSP00000509254.1:n.*481_*556dup
ENST00000688308.1:c.370_445dup	ENSP00000508752.1:p.Gln149LeufsTer2
ENST00000688922.1:c.291_366dup
ENST00000693560.1:c.889_964dup	ENSP00000509861.1:p.Gln322LeufsTer2
ENST00000371953.8:c.370_445dup MANE Select	ENSP00000361021.3:p.Gln149LeufsTer2
ENST00000371953.7:c.370_445dup	ENSP00000361021.3:p.Gln149LeufsTer2
ENST00000498703.1:n.196_271dup
ENST00000610634.1:c.268_343dup	ENSP00000477517.1:p.Gln115LeufsTer2
NM_000314.5:c.370_445dup	NP_000305.3:p.Gln149LeufsTer2
NM_000314.6:c.370_445dup	NP_000305.3:p.Gln149LeufsTer2
NM_001304717.2:c.889_964dup	NP_001291646.2:p.Gln322LeufsTer2
NM_001304718.1:c.-381_-306dup	NP_001291647.1:n.-381_-306dup
XM_006717926.2:c.325_400dup	XP_006717989.1:p.Gln134LeufsTer2
XM_011539981.1:c.370_445dup	XP_011538283.1:p.Gln149LeufsTer2
XM_011539982.1:c.274_349dup	XP_011538284.1:p.Gln117LeufsTer2
XR_945789.1:n.1082_1157dup
XR_945790.1:n.1082_1157dup
XR_945791.1:n.1082_1157dup
NM_000314.7:c.370_445dup	NP_000305.3:p.Gln149LeufsTer2
NM_001304717.5:c.889_964dup	NP_001291646.4:p.Gln322LeufsTer2
NM_001304718.2:c.-381_-306dup	NP_001291647.1:n.-381_-306dup
NM_000314.8:c.370_445dup MANE Select	NP_000305.3:p.Gln149LeufsTer2