Canonical Allele Identifier: CA645554043

Gene: PTEN

Linked Data

• COSMIC: COSM33685

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957958_87957959del , CM000672.2:g.87957958_87957959del	GRCh38
NC_000010.10:g.89717715_89717716del , CM000672.1:g.89717715_89717716del	GRCh37
NC_000010.9:g.89707695_89707696del	NCBI36
NG_007466.2:g.99520_99521del , LRG_311:g.99520_99521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.740_741del	ENSP00000514759.2:p.Leu247SerfsTer5
ENST00000710265.1:c.740_741del	ENSP00000518161.1:p.Leu247SerfsTer5
ENST00000472832.3:c.740_741del	ENSP00000483066.2:p.Leu247SerfsTer5
ENST00000688158.2:n.1475_1476del
ENST00000688922.2:c.*570_*571del	ENSP00000508742.2:n.*570_*571del
ENST00000700021.1:c.695_696del	ENSP00000514757.1:p.Leu232SerfsTer5
ENST00000700022.1:c.*79_*80del	ENSP00000514758.1:n.*79_*80del
ENST00000700023.1:n.1898_1899del
ENST00000700024.1:n.2132_2133del
ENST00000700025.1:n.1509_1510del
ENST00000700026.1:n.377_378del
ENST00000700029.1:c.574_575del
ENST00000706954.1:c.740_741del	ENSP00000516674.1:p.Leu247SerfsTer5
ENST00000706955.1:c.*775_*776del	ENSP00000516675.1:n.*775_*776del
ENST00000686459.1:c.*326_*327del	ENSP00000508909.1:n.*326_*327del
ENST00000688158.1:c.*851_*852del	ENSP00000509254.1:n.*851_*852del
ENST00000688308.1:c.740_741del	ENSP00000508752.1:p.Leu247SerfsTer5
ENST00000688922.1:c.661_662del
ENST00000693560.1:c.1259_1260del	ENSP00000509861.1:p.Leu420SerfsTer5
ENST00000371953.8:c.740_741del MANE Select	ENSP00000361021.3:p.Leu247SerfsTer5
ENST00000371953.7:c.740_741del	ENSP00000361021.3:p.Leu247SerfsTer5
ENST00000472832.2:c.167_168del	ENSP00000483066.1:p.Leu56SerfsTer5
NM_000314.5:c.740_741del	NP_000305.3:p.Leu247SerfsTer5
NM_000314.6:c.740_741del	NP_000305.3:p.Leu247SerfsTer5
NM_001304717.2:c.1259_1260del	NP_001291646.2:p.Leu420SerfsTer5
NM_001304718.1:c.149_150del	NP_001291647.1:p.Leu50SerfsTer5
XM_006717926.2:c.695_696del	XP_006717989.1:p.Leu232SerfsTer5
XM_011539981.1:c.740_741del	XP_011538283.1:p.Leu247SerfsTer5
XM_011539982.1:c.644_645del	XP_011538284.1:p.Leu215SerfsTer5
XR_945791.1:n.1310_1311del
NM_000314.7:c.740_741del	NP_000305.3:p.Leu247SerfsTer5
NM_001304717.5:c.1259_1260del	NP_001291646.4:p.Leu420SerfsTer5
NM_001304718.2:c.149_150del	NP_001291647.1:p.Leu50SerfsTer5
NM_000314.8:c.740_741del MANE Select	NP_000305.3:p.Leu247SerfsTer5