Canonical Allele Identifier: CA2580082200

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2131003
• ClinVar RCV Id: RCV003047986

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960914_87960915del , CM000672.2:g.87960914_87960915del	GRCh38
NC_000010.10:g.89720671_89720672del , CM000672.1:g.89720671_89720672del	GRCh37
NC_000010.9:g.89710651_89710652del	NCBI36
NG_007466.2:g.102476_102477del , LRG_311:g.102476_102477del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.915_916del	ENSP00000514759.2:p.Trp305CysfsTer23
ENST00000710265.1:c.822_823del	ENSP00000518161.1:p.Trp274CysfsTer23
ENST00000472832.3:c.822_823del	ENSP00000483066.2:p.Trp274CysfsTer23
ENST00000688158.2:n.1557_1558del
ENST00000688922.2:c.*652_*653del	ENSP00000508742.2:n.*652_*653del
ENST00000700021.1:c.777_778del	ENSP00000514757.1:p.Trp259CysfsTer23
ENST00000700022.1:c.*161_*162del	ENSP00000514758.1:n.*161_*162del
ENST00000700023.1:n.1980_1981del
ENST00000700024.1:n.2214_2215del
ENST00000700025.1:n.1591_1592del
ENST00000700026.1:n.459_460del
ENST00000700029.1:c.749_750del
ENST00000706954.1:c.822_823del	ENSP00000516674.1:p.Trp274CysfsTer23
ENST00000706955.1:c.*857_*858del	ENSP00000516675.1:n.*857_*858del
ENST00000686459.1:c.*408_*409del	ENSP00000508909.1:n.*408_*409del
ENST00000688158.1:c.*933_*934del	ENSP00000509254.1:n.*933_*934del
ENST00000688308.1:c.822_823del	ENSP00000508752.1:p.Trp274CysfsTer23
ENST00000688922.1:c.743_744del
ENST00000693560.1:c.1341_1342del	ENSP00000509861.1:p.Trp447CysfsTer23
ENST00000371953.8:c.822_823del MANE Select	ENSP00000361021.3:p.Trp274CysfsTer23
ENST00000371953.7:c.822_823del	ENSP00000361021.3:p.Trp274CysfsTer23
ENST00000472832.2:c.249_250del	ENSP00000483066.1:p.Trp83CysfsTer23
NM_000314.5:c.822_823del	NP_000305.3:p.Trp274CysfsTer23
NM_000314.6:c.822_823del	NP_000305.3:p.Trp274CysfsTer23
NM_001304717.2:c.1341_1342del	NP_001291646.2:p.Trp447CysfsTer23
NM_001304718.1:c.231_232del	NP_001291647.1:p.Trp77CysfsTer23
XM_006717926.2:c.777_778del	XP_006717989.1:p.Trp259CysfsTer23
XM_011539981.1:c.822_823del	XP_011538283.1:p.Trp274CysfsTer23
XM_011539982.1:c.726_727del	XP_011538284.1:p.Trp242CysfsTer23
XR_945791.1:n.1392_1393del
NM_000314.7:c.822_823del	NP_000305.3:p.Trp274CysfsTer23
NM_001304717.5:c.1341_1342del	NP_001291646.4:p.Trp447CysfsTer23
NM_001304718.2:c.231_232del	NP_001291647.1:p.Trp77CysfsTer23
NM_000314.8:c.822_823del MANE Select	NP_000305.3:p.Trp274CysfsTer23