Canonical Allele Identifier: CA645554026

Gene: PTEN

Linked Data

• COSMIC: COSM1173615

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957961_87957962insAGTTACC , CM000672.2:g.87957961_87957962insAGTTACC	GRCh38
NC_000010.10:g.89717718_89717719insAGTTACC , CM000672.1:g.89717718_89717719insAGTTACC	GRCh37
NC_000010.9:g.89707698_89707699insAGTTACC	NCBI36
NG_007466.2:g.99523_99524insAGTTACC , LRG_311:g.99523_99524insAGTTACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.743_744insAGTTACC	ENSP00000514759.2:p.Cys250ThrfsTer5
ENST00000710265.1:c.743_744insAGTTACC	ENSP00000518161.1:p.Cys250ThrfsTer5
ENST00000472832.3:c.743_744insAGTTACC	ENSP00000483066.2:p.Cys250ThrfsTer5
ENST00000688158.2:n.1478_1479insAGTTACC
ENST00000688922.2:c.*573_*574insAGTTACC	ENSP00000508742.2:n.*573_*574insAGTTACC
ENST00000700021.1:c.698_699insAGTTACC	ENSP00000514757.1:p.Cys235ThrfsTer5
ENST00000700022.1:c.*82_*83insAGTTACC	ENSP00000514758.1:n.*82_*83insAGTTACC
ENST00000700023.1:n.1901_1902insAGTTACC
ENST00000700024.1:n.2135_2136insAGTTACC
ENST00000700025.1:n.1512_1513insAGTTACC
ENST00000700026.1:n.380_381insAGTTACC
ENST00000700029.1:c.577_578insAGTTACC
ENST00000706954.1:c.743_744insAGTTACC	ENSP00000516674.1:p.Cys250ThrfsTer5
ENST00000706955.1:c.*778_*779insAGTTACC	ENSP00000516675.1:n.*778_*779insAGTTACC
ENST00000686459.1:c.*329_*330insAGTTACC	ENSP00000508909.1:n.*329_*330insAGTTACC
ENST00000688158.1:c.*854_*855insAGTTACC	ENSP00000509254.1:n.*854_*855insAGTTACC
ENST00000688308.1:c.743_744insAGTTACC	ENSP00000508752.1:p.Cys250ThrfsTer5
ENST00000688922.1:c.664_665insAGTTACC
ENST00000693560.1:c.1262_1263insAGTTACC	ENSP00000509861.1:p.Cys423ThrfsTer5
ENST00000371953.8:c.743_744insAGTTACC MANE Select	ENSP00000361021.3:p.Cys250ThrfsTer5
ENST00000371953.7:c.743_744insAGTTACC	ENSP00000361021.3:p.Cys250ThrfsTer5
ENST00000472832.2:c.170_171insAGTTACC	ENSP00000483066.1:p.Cys59ThrfsTer5
NM_000314.5:c.743_744insAGTTACC	NP_000305.3:p.Cys250ThrfsTer5
NM_000314.6:c.743_744insAGTTACC	NP_000305.3:p.Cys250ThrfsTer5
NM_001304717.2:c.1262_1263insAGTTACC	NP_001291646.2:p.Cys423ThrfsTer5
NM_001304718.1:c.152_153insAGTTACC	NP_001291647.1:p.Cys53ThrfsTer5
XM_006717926.2:c.698_699insAGTTACC	XP_006717989.1:p.Cys235ThrfsTer5
XM_011539981.1:c.743_744insAGTTACC	XP_011538283.1:p.Cys250ThrfsTer5
XM_011539982.1:c.647_648insAGTTACC	XP_011538284.1:p.Cys218ThrfsTer5
XR_945791.1:n.1313_1314insAGTTACC
NM_000314.7:c.743_744insAGTTACC	NP_000305.3:p.Cys250ThrfsTer5
NM_001304717.5:c.1262_1263insAGTTACC	NP_001291646.4:p.Cys423ThrfsTer5
NM_001304718.2:c.152_153insAGTTACC	NP_001291647.1:p.Cys53ThrfsTer5
NM_000314.8:c.743_744insAGTTACC MANE Select	NP_000305.3:p.Cys250ThrfsTer5