Canonical Allele Identifier: CA2695200956

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2673974
• ClinVar RCV Id: RCV003450580

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961067_87961074del , CM000672.2:g.87961067_87961074del	GRCh38
NC_000010.10:g.89720824_89720831del , CM000672.1:g.89720824_89720831del	GRCh37
NC_000010.9:g.89710804_89710811del	NCBI36
NG_007466.2:g.102629_102636del , LRG_311:g.102629_102636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1068_1075del	ENSP00000514759.2:p.Asp357LysfsTer2
ENST00000710265.1:c.975_982del	ENSP00000518161.1:p.Asp326LysfsTer2
ENST00000472832.3:c.975_982del	ENSP00000483066.2:p.Asp326LysfsTer2
ENST00000688158.2:n.1710_1717del
ENST00000688922.2:c.*805_*812del	ENSP00000508742.2:n.*805_*812del
ENST00000700021.1:c.930_937del	ENSP00000514757.1:p.Asp311LysfsTer2
ENST00000700022.1:c.*314_*321del	ENSP00000514758.1:n.*314_*321del
ENST00000700023.1:n.2133_2140del
ENST00000700024.1:n.2367_2374del
ENST00000700025.1:n.1744_1751del
ENST00000700026.1:n.612_619del
ENST00000706954.1:c.975_982del	ENSP00000516674.1:p.Asp326LysfsTer2
ENST00000706955.1:c.*1010_*1017del	ENSP00000516675.1:n.*1010_*1017del
ENST00000686459.1:c.*561_*568del	ENSP00000508909.1:n.*561_*568del
ENST00000688158.1:c.*1086_*1093del	ENSP00000509254.1:n.*1086_*1093del
ENST00000688308.1:c.975_982del	ENSP00000508752.1:p.Asp326LysfsTer2
ENST00000688922.1:c.896_903del
ENST00000693560.1:c.1494_1501del	ENSP00000509861.1:p.Asp499LysfsTer2
ENST00000371953.8:c.975_982del MANE Select	ENSP00000361021.3:p.Asp326LysfsTer2
ENST00000371953.7:c.975_982del	ENSP00000361021.3:p.Asp326LysfsTer2
ENST00000472832.2:c.402_409del	ENSP00000483066.1:p.Asp135LysfsTer2
NM_000314.5:c.975_982del	NP_000305.3:p.Asp326LysfsTer2
NM_000314.6:c.975_982del	NP_000305.3:p.Asp326LysfsTer2
NM_001304717.2:c.1494_1501del	NP_001291646.2:p.Asp499LysfsTer2
NM_001304718.1:c.384_391del	NP_001291647.1:p.Asp129LysfsTer2
XM_006717926.2:c.930_937del	XP_006717989.1:p.Asp311LysfsTer2
XM_011539981.1:c.975_982del	XP_011538283.1:p.Asp326LysfsTer2
XM_011539982.1:c.879_886del	XP_011538284.1:p.Asp294LysfsTer2
XR_945791.1:n.1545_1552del
NM_000314.7:c.975_982del	NP_000305.3:p.Asp326LysfsTer2
NM_001304717.5:c.1494_1501del	NP_001291646.4:p.Asp499LysfsTer2
NM_001304718.2:c.384_391del	NP_001291647.1:p.Asp129LysfsTer2
NM_000314.8:c.975_982del MANE Select	NP_000305.3:p.Asp326LysfsTer2