Canonical Allele Identifier: CA645553897

Gene: PTEN

Linked Data

• COSMIC: COSM5966951

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952156_87952157dup , CM000672.2:g.87952156_87952157dup	GRCh38
NC_000010.10:g.89711913_89711914dup , CM000672.1:g.89711913_89711914dup	GRCh37
NC_000010.9:g.89701893_89701894dup	NCBI36
NG_007466.2:g.93718_93719dup , LRG_311:g.93718_93719dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.531_532dup	ENSP00000514759.2:p.Tyr178PhefsTer6
ENST00000710265.1:c.531_532dup	ENSP00000518161.1:p.Tyr178PhefsTer6
ENST00000472832.3:c.531_532dup	ENSP00000483066.2:p.Tyr178PhefsTer6
ENST00000688158.2:n.1266_1267dup
ENST00000688922.2:c.*361_*362dup	ENSP00000508742.2:n.*361_*362dup
ENST00000700021.1:c.486_487dup	ENSP00000514757.1:p.Tyr163PhefsTer6
ENST00000700022.1:c.493-5697_493-5696dup	ENSP00000514758.1:n.493-5697_493-5696dup
ENST00000700023.1:n.1689_1690dup
ENST00000700024.1:n.1923_1924dup
ENST00000700025.1:n.1300_1301dup
ENST00000700029.1:c.365_366dup
ENST00000706954.1:c.531_532dup	ENSP00000516674.1:p.Tyr178PhefsTer6
ENST00000706955.1:c.*566_*567dup	ENSP00000516675.1:n.*566_*567dup
ENST00000686459.1:c.*117_*118dup	ENSP00000508909.1:n.*117_*118dup
ENST00000688158.1:c.*642_*643dup	ENSP00000509254.1:n.*642_*643dup
ENST00000688308.1:c.531_532dup	ENSP00000508752.1:p.Tyr178PhefsTer6
ENST00000688922.1:c.452_453dup
ENST00000693560.1:c.1050_1051dup	ENSP00000509861.1:p.Tyr351PhefsTer6
ENST00000371953.8:c.531_532dup MANE Select	ENSP00000361021.3:p.Tyr178PhefsTer6
ENST00000371953.7:c.531_532dup	ENSP00000361021.3:p.Tyr178PhefsTer6
NM_000314.5:c.531_532dup	NP_000305.3:p.Tyr178PhefsTer6
NM_000314.6:c.531_532dup	NP_000305.3:p.Tyr178PhefsTer6
NM_001304717.2:c.1050_1051dup	NP_001291646.2:p.Tyr351PhefsTer6
NM_001304718.1:c.-61_-60dup	NP_001291647.1:n.-61_-60dup
XM_006717926.2:c.486_487dup	XP_006717989.1:p.Tyr163PhefsTer6
XM_011539981.1:c.531_532dup	XP_011538283.1:p.Tyr178PhefsTer6
XM_011539982.1:c.435_436dup	XP_011538284.1:p.Tyr146PhefsTer6
XR_945789.1:n.1402_1403dup
XR_945790.1:n.1519_1520dup
XR_945791.1:n.1205-5697_1205-5696dup
NM_000314.7:c.531_532dup	NP_000305.3:p.Tyr178PhefsTer6
NM_001304717.5:c.1050_1051dup	NP_001291646.4:p.Tyr351PhefsTer6
NM_001304718.2:c.-61_-60dup	NP_001291647.1:n.-61_-60dup
NM_000314.8:c.531_532dup MANE Select	NP_000305.3:p.Tyr178PhefsTer6