Canonical Allele Identifier: CA2695200897

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2673938
• ClinVar RCV Id: RCV003450549

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960933_87960943del , CM000672.2:g.87960933_87960943del	GRCh38
NC_000010.10:g.89720690_89720700del , CM000672.1:g.89720690_89720700del	GRCh37
NC_000010.9:g.89710670_89710680del	NCBI36
NG_007466.2:g.102495_102505del , LRG_311:g.102495_102505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.934_944del	ENSP00000514759.2:p.Pro312GlyfsTer13
ENST00000710265.1:c.841_851del	ENSP00000518161.1:p.Pro281GlyfsTer13
ENST00000472832.3:c.841_851del	ENSP00000483066.2:p.Pro281GlyfsTer13
ENST00000688158.2:n.1576_1586del
ENST00000688922.2:c.*671_*681del	ENSP00000508742.2:n.*671_*681del
ENST00000700021.1:c.796_806del	ENSP00000514757.1:p.Pro266GlyfsTer13
ENST00000700022.1:c.*180_*190del	ENSP00000514758.1:n.*180_*190del
ENST00000700023.1:n.1999_2009del
ENST00000700024.1:n.2233_2243del
ENST00000700025.1:n.1610_1620del
ENST00000700026.1:n.478_488del
ENST00000700029.1:c.768_778del
ENST00000706954.1:c.841_851del	ENSP00000516674.1:p.Pro281GlyfsTer13
ENST00000706955.1:c.*876_*886del	ENSP00000516675.1:n.*876_*886del
ENST00000686459.1:c.*427_*437del	ENSP00000508909.1:n.*427_*437del
ENST00000688158.1:c.*952_*962del	ENSP00000509254.1:n.*952_*962del
ENST00000688308.1:c.841_851del	ENSP00000508752.1:p.Pro281GlyfsTer13
ENST00000688922.1:c.762_772del
ENST00000693560.1:c.1360_1370del	ENSP00000509861.1:p.Pro454GlyfsTer13
ENST00000371953.8:c.841_851del MANE Select	ENSP00000361021.3:p.Pro281GlyfsTer13
ENST00000371953.7:c.841_851del	ENSP00000361021.3:p.Pro281GlyfsTer13
ENST00000472832.2:c.268_278del	ENSP00000483066.1:p.Pro90GlyfsTer13
NM_000314.5:c.841_851del	NP_000305.3:p.Pro281GlyfsTer13
NM_000314.6:c.841_851del	NP_000305.3:p.Pro281GlyfsTer13
NM_001304717.2:c.1360_1370del	NP_001291646.2:p.Pro454GlyfsTer13
NM_001304718.1:c.250_260del	NP_001291647.1:p.Pro84GlyfsTer13
XM_006717926.2:c.796_806del	XP_006717989.1:p.Pro266GlyfsTer13
XM_011539981.1:c.841_851del	XP_011538283.1:p.Pro281GlyfsTer13
XM_011539982.1:c.745_755del	XP_011538284.1:p.Pro249GlyfsTer13
XR_945791.1:n.1411_1421del
NM_000314.7:c.841_851del	NP_000305.3:p.Pro281GlyfsTer13
NM_001304717.5:c.1360_1370del	NP_001291646.4:p.Pro454GlyfsTer13
NM_001304718.2:c.250_260del	NP_001291647.1:p.Pro84GlyfsTer13
NM_000314.8:c.841_851del MANE Select	NP_000305.3:p.Pro281GlyfsTer13