Canonical Allele Identifier: CA645554058

Gene: PTEN

Linked Data

• COSMIC: COSM86940

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957976_87957978delinsCC , CM000672.2:g.87957976_87957978delinsCC	GRCh38
NC_000010.10:g.89717733_89717735delinsCC , CM000672.1:g.89717733_89717735delinsCC	GRCh37
NC_000010.9:g.89707713_89707715delinsCC	NCBI36
NG_007466.2:g.99538_99540delinsCC , LRG_311:g.99538_99540delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.758_760delinsCC	ENSP00000514759.2:p.Ile253ThrfsTer3
ENST00000710265.1:c.758_760delinsCC	ENSP00000518161.1:p.Ile253ThrfsTer3
ENST00000472832.3:c.758_760delinsCC	ENSP00000483066.2:p.Ile253ThrfsTer3
ENST00000688158.2:n.1493_1495delinsCC
ENST00000688922.2:c.*588_*590delinsCC	ENSP00000508742.2:n.*588_*590delinsCC
ENST00000700021.1:c.713_715delinsCC	ENSP00000514757.1:p.Ile238ThrfsTer3
ENST00000700022.1:c.*97_*99delinsCC	ENSP00000514758.1:n.*97_*99delinsCC
ENST00000700023.1:n.1916_1918delinsCC
ENST00000700024.1:n.2150_2152delinsCC
ENST00000700025.1:n.1527_1529delinsCC
ENST00000700026.1:n.395_397delinsCC
ENST00000700029.1:c.592_594delinsCC
ENST00000706954.1:c.758_760delinsCC	ENSP00000516674.1:p.Ile253ThrfsTer3
ENST00000706955.1:c.*793_*795delinsCC	ENSP00000516675.1:n.*793_*795delinsCC
ENST00000686459.1:c.*344_*346delinsCC	ENSP00000508909.1:n.*344_*346delinsCC
ENST00000688158.1:c.*869_*871delinsCC	ENSP00000509254.1:n.*869_*871delinsCC
ENST00000688308.1:c.758_760delinsCC	ENSP00000508752.1:p.Ile253ThrfsTer3
ENST00000688922.1:c.679_681delinsCC
ENST00000693560.1:c.1277_1279delinsCC	ENSP00000509861.1:p.Ile426ThrfsTer3
ENST00000371953.8:c.758_760delinsCC MANE Select	ENSP00000361021.3:p.Ile253ThrfsTer3
ENST00000371953.7:c.758_760delinsCC	ENSP00000361021.3:p.Ile253ThrfsTer3
ENST00000472832.2:c.185_187delinsCC	ENSP00000483066.1:p.Ile62ThrfsTer3
NM_000314.5:c.758_760delinsCC	NP_000305.3:p.Ile253ThrfsTer3
NM_000314.6:c.758_760delinsCC	NP_000305.3:p.Ile253ThrfsTer3
NM_001304717.2:c.1277_1279delinsCC	NP_001291646.2:p.Ile426ThrfsTer3
NM_001304718.1:c.167_169delinsCC	NP_001291647.1:p.Ile56ThrfsTer3
XM_006717926.2:c.713_715delinsCC	XP_006717989.1:p.Ile238ThrfsTer3
XM_011539981.1:c.758_760delinsCC	XP_011538283.1:p.Ile253ThrfsTer3
XM_011539982.1:c.662_664delinsCC	XP_011538284.1:p.Ile221ThrfsTer3
XR_945791.1:n.1328_1330delinsCC
NM_000314.7:c.758_760delinsCC	NP_000305.3:p.Ile253ThrfsTer3
NM_001304717.5:c.1277_1279delinsCC	NP_001291646.4:p.Ile426ThrfsTer3
NM_001304718.2:c.167_169delinsCC	NP_001291647.1:p.Ile56ThrfsTer3
NM_000314.8:c.758_760delinsCC MANE Select	NP_000305.3:p.Ile253ThrfsTer3