Canonical Allele Identifier: CA2580082216

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1806783
• ClinVar RCV Id: RCV002474212

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960941_87960950del , CM000672.2:g.87960941_87960950del	GRCh38
NC_000010.10:g.89720698_89720707del , CM000672.1:g.89720698_89720707del	GRCh37
NC_000010.9:g.89710678_89710687del	NCBI36
NG_007466.2:g.102503_102512del , LRG_311:g.102503_102512del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.942_951del	ENSP00000514759.2:p.Glu315GlnfsTer4
ENST00000710265.1:c.849_858del	ENSP00000518161.1:p.Glu284GlnfsTer4
ENST00000472832.3:c.849_858del	ENSP00000483066.2:p.Glu284GlnfsTer4
ENST00000688158.2:n.1584_1593del
ENST00000688922.2:c.*679_*688del	ENSP00000508742.2:n.*679_*688del
ENST00000700021.1:c.804_813del	ENSP00000514757.1:p.Glu269GlnfsTer4
ENST00000700022.1:c.*188_*197del	ENSP00000514758.1:n.*188_*197del
ENST00000700023.1:n.2007_2016del
ENST00000700024.1:n.2241_2250del
ENST00000700025.1:n.1618_1627del
ENST00000700026.1:n.486_495del
ENST00000700029.1:c.776_785del
ENST00000706954.1:c.849_858del	ENSP00000516674.1:p.Glu284GlnfsTer4
ENST00000706955.1:c.*884_*893del	ENSP00000516675.1:n.*884_*893del
ENST00000686459.1:c.*435_*444del	ENSP00000508909.1:n.*435_*444del
ENST00000688158.1:c.*960_*969del	ENSP00000509254.1:n.*960_*969del
ENST00000688308.1:c.849_858del	ENSP00000508752.1:p.Glu284GlnfsTer4
ENST00000688922.1:c.770_779del
ENST00000693560.1:c.1368_1377del	ENSP00000509861.1:p.Glu457GlnfsTer4
ENST00000371953.8:c.849_858del MANE Select	ENSP00000361021.3:p.Glu284GlnfsTer4
ENST00000371953.7:c.849_858del	ENSP00000361021.3:p.Glu284GlnfsTer4
ENST00000472832.2:c.276_285del	ENSP00000483066.1:p.Glu93GlnfsTer4
NM_000314.5:c.849_858del	NP_000305.3:p.Glu284GlnfsTer4
NM_000314.6:c.849_858del	NP_000305.3:p.Glu284GlnfsTer4
NM_001304717.2:c.1368_1377del	NP_001291646.2:p.Glu457GlnfsTer4
NM_001304718.1:c.258_267del	NP_001291647.1:p.Glu87GlnfsTer4
XM_006717926.2:c.804_813del	XP_006717989.1:p.Glu269GlnfsTer4
XM_011539981.1:c.849_858del	XP_011538283.1:p.Glu284GlnfsTer4
XM_011539982.1:c.753_762del	XP_011538284.1:p.Glu252GlnfsTer4
XR_945791.1:n.1419_1428del
NM_000314.7:c.849_858del	NP_000305.3:p.Glu284GlnfsTer4
NM_001304717.5:c.1368_1377del	NP_001291646.4:p.Glu457GlnfsTer4
NM_001304718.2:c.258_267del	NP_001291647.1:p.Glu87GlnfsTer4
NM_000314.8:c.849_858del MANE Select	NP_000305.3:p.Glu284GlnfsTer4