Canonical Allele Identifier: CA2695200961

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952231_87952235dup , CM000672.2:g.87952231_87952235dup	GRCh38
NC_000010.10:g.89711988_89711992dup , CM000672.1:g.89711988_89711992dup	GRCh37
NC_000010.9:g.89701968_89701972dup	NCBI36
NG_007466.2:g.93793_93797dup , LRG_311:g.93793_93797dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.606_610dup MANE Select	NP_000305.3:p.Pro204LeufsTer19
ENST00000371953.8:c.606_610dup MANE Select	ENSP00000361021.3:p.Pro204LeufsTer19
NM_000314.5:c.606_610dup	NP_000305.3:p.Pro204LeufsTer19
NM_000314.6:c.606_610dup	NP_000305.3:p.Pro204LeufsTer19
NM_000314.7:c.606_610dup	NP_000305.3:p.Pro204LeufsTer19
NM_001304717.2:c.1125_1129dup	NP_001291646.2:p.Pro377LeufsTer19
NM_001304717.5:c.1125_1129dup	NP_001291646.4:p.Pro377LeufsTer19
NM_001304718.1:c.15_19dup	NP_001291647.1:p.Pro7LeufsTer19
NM_001304718.2:c.15_19dup	NP_001291647.1:p.Pro7LeufsTer19
ENST00000371953.7:c.606_610dup	ENSP00000361021.3:p.Pro204LeufsTer19
ENST00000472832.2:c.33_37dup	ENSP00000483066.1:p.Pro13LeufsTer19
ENST00000472832.3:c.606_610dup	ENSP00000483066.2:p.Pro204LeufsTer19
ENST00000686459.1:c.*192_*196dup	ENSP00000508909.1:n.*192_*196dup
ENST00000688158.1:c.*717_*721dup	ENSP00000509254.1:n.*717_*721dup
ENST00000688158.2:n.1341_1345dup
ENST00000688308.1:c.606_610dup	ENSP00000508752.1:p.Pro204LeufsTer19
ENST00000688922.1:c.527_531dup
ENST00000688922.2:c.*436_*440dup	ENSP00000508742.2:n.*436_*440dup
ENST00000693560.1:c.1125_1129dup	ENSP00000509861.1:p.Pro377LeufsTer19
ENST00000700021.1:c.561_565dup	ENSP00000514757.1:p.Pro189LeufsTer19
ENST00000700022.1:c.493-5622_493-5618dup	ENSP00000514758.1:n.493-5622_493-5618dup
ENST00000700023.1:n.1764_1768dup
ENST00000700024.1:n.1998_2002dup
ENST00000700025.1:n.1375_1379dup
ENST00000700029.1:c.440_444dup
ENST00000700029.2:c.606_610dup	ENSP00000514759.2:p.Pro204LeufsTer19
ENST00000706954.1:c.606_610dup	ENSP00000516674.1:p.Pro204LeufsTer19
ENST00000706955.1:c.*641_*645dup	ENSP00000516675.1:n.*641_*645dup
ENST00000710265.1:c.606_610dup	ENSP00000518161.1:p.Pro204LeufsTer19
XM_006717926.2:c.561_565dup	XP_006717989.1:p.Pro189LeufsTer19
XM_011539981.1:c.606_610dup	XP_011538283.1:p.Pro204LeufsTer19
XM_011539982.1:c.510_514dup	XP_011538284.1:p.Pro172LeufsTer19
XR_945791.1:n.1205-5622_1205-5618dup