Canonical Allele Identifier: CA1926189984

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960945_87960947delinsGAA , CM000672.2:g.87960945_87960947delinsGAA	GRCh38
NC_000010.10:g.89720702_89720704delinsGAA , CM000672.1:g.89720702_89720704delinsGAA	GRCh37
NC_000010.9:g.89710682_89710684delinsGAA	NCBI36
NG_007466.2:g.102507_102509delinsGAA , LRG_311:g.102507_102509delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.946_948delinsGAA	ENSP00000514759.2:p.Glu316=
ENST00000710265.1:c.853_855delinsGAA	ENSP00000518161.1:p.Glu285=
ENST00000472832.3:c.853_855delinsGAA	ENSP00000483066.2:p.Glu285=
ENST00000688158.2:n.1588_1590delinsGAA
ENST00000688922.2:c.*683_*685delinsGAA	ENSP00000508742.2:n.*683_*685delinsGAA
ENST00000700021.1:c.808_810delinsGAA	ENSP00000514757.1:p.Glu270=
ENST00000700022.1:c.*192_*194delinsGAA	ENSP00000514758.1:n.*192_*194delinsGAA
ENST00000700023.1:n.2011_2013delinsGAA
ENST00000700024.1:n.2245_2247delinsGAA
ENST00000700025.1:n.1622_1624delinsGAA
ENST00000700026.1:n.490_492delinsGAA
ENST00000700029.1:c.780_782delinsGAA
ENST00000706954.1:c.853_855delinsGAA	ENSP00000516674.1:p.Glu285=
ENST00000706955.1:c.*888_*890delinsGAA	ENSP00000516675.1:n.*888_*890delinsGAA
ENST00000686459.1:c.*439_*441delinsGAA	ENSP00000508909.1:n.*439_*441delinsGAA
ENST00000688158.1:c.*964_*966delinsGAA	ENSP00000509254.1:n.*964_*966delinsGAA
ENST00000688308.1:c.853_855delinsGAA	ENSP00000508752.1:p.Glu285=
ENST00000688922.1:c.774_776delinsGAA
ENST00000693560.1:c.1372_1374delinsGAA	ENSP00000509861.1:p.Glu458=
ENST00000371953.8:c.853_855delinsGAA MANE Select	ENSP00000361021.3:p.Glu285=
ENST00000371953.7:c.853_855delinsGAA	ENSP00000361021.3:p.Glu285=
ENST00000472832.2:c.280_282delinsGAA	ENSP00000483066.1:p.Glu94=
NM_000314.5:c.853_855delinsGAA	NP_000305.3:p.Glu285=
NM_000314.6:c.853_855delinsGAA	NP_000305.3:p.Glu285=
NM_001304717.2:c.1372_1374delinsGAA	NP_001291646.2:p.Glu458=
NM_001304718.1:c.262_264delinsGAA	NP_001291647.1:p.Glu88=
XM_006717926.2:c.808_810delinsGAA	XP_006717989.1:p.Glu270=
XM_011539981.1:c.853_855delinsGAA	XP_011538283.1:p.Glu285=
XM_011539982.1:c.757_759delinsGAA	XP_011538284.1:p.Glu253=
XR_945791.1:n.1423_1425delinsGAA
NM_000314.7:c.853_855delinsGAA	NP_000305.3:p.Glu285=
NM_001304717.5:c.1372_1374delinsGAA	NP_001291646.4:p.Glu458=
NM_001304718.2:c.262_264delinsGAA	NP_001291647.1:p.Glu88=
NM_000314.8:c.853_855delinsGAA MANE Select	NP_000305.3:p.Glu285=