Canonical Allele Identifier: CA2579926527

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965293_87965295delinsGCT , CM000672.2:g.87965293_87965295delinsGCT	GRCh38
NC_000010.10:g.89725050_89725052delinsGCT , CM000672.1:g.89725050_89725052delinsGCT	GRCh37
NC_000010.9:g.89715030_89715032delinsGCT	NCBI36
NG_007466.2:g.106855_106857delinsGCT , LRG_311:g.106855_106857delinsGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1126_1128delinsGCT	ENSP00000514759.2:p.Leu376Ala
ENST00000710265.1:c.*62_*64delinsGCT	ENSP00000518161.1:n.*62_*64delinsGCT
ENST00000688158.2:n.1768_1770delinsGCT
ENST00000688922.2:c.*863_*865delinsGCT	ENSP00000508742.2:n.*863_*865delinsGCT
ENST00000700021.1:c.988_990delinsGCT	ENSP00000514757.1:p.Leu330Ala
ENST00000700022.1:c.*372_*374delinsGCT	ENSP00000514758.1:n.*372_*374delinsGCT
ENST00000700023.1:n.2191_2193delinsGCT
ENST00000700024.1:n.2425_2427delinsGCT
ENST00000706954.1:c.1033_1035delinsGCT	ENSP00000516674.1:p.Leu345Ala
ENST00000706955.1:c.*1068_*1070delinsGCT	ENSP00000516675.1:n.*1068_*1070delinsGCT
ENST00000686459.1:c.*619_*621delinsGCT	ENSP00000508909.1:n.*619_*621delinsGCT
ENST00000688158.1:c.*1144_*1146delinsGCT	ENSP00000509254.1:n.*1144_*1146delinsGCT
ENST00000688308.1:c.1033_1035delinsGCT	ENSP00000508752.1:p.Leu345Ala
ENST00000688922.1:c.954_956delinsGCT
ENST00000693560.1:c.1552_1554delinsGCT	ENSP00000509861.1:p.Leu518Ala
ENST00000371953.8:c.1033_1035delinsGCT MANE Select	ENSP00000361021.3:p.Leu345Ala
ENST00000371953.7:c.1033_1035delinsGCT	ENSP00000361021.3:p.Leu345Ala
NM_000314.5:c.1033_1035delinsGCT	NP_000305.3:p.Leu345Ala
NM_000314.6:c.1033_1035delinsGCT	NP_000305.3:p.Leu345Ala
NM_001304717.2:c.1552_1554delinsGCT	NP_001291646.2:p.Leu518Ala
NM_001304718.1:c.442_444delinsGCT	NP_001291647.1:p.Leu148Ala
XM_006717926.2:c.988_990delinsGCT	XP_006717989.1:p.Leu330Ala
XM_011539982.1:c.937_939delinsGCT	XP_011538284.1:p.Leu313Ala
XR_945791.1:n.1603_1605delinsGCT
NM_000314.7:c.1033_1035delinsGCT	NP_000305.3:p.Leu345Ala
NM_001304717.5:c.1552_1554delinsGCT	NP_001291646.4:p.Leu518Ala
NM_001304718.2:c.442_444delinsGCT	NP_001291647.1:p.Leu148Ala
NM_000314.8:c.1033_1035delinsGCT MANE Select	NP_000305.3:p.Leu345Ala