Canonical Allele Identifier: CA891842084

Gene: PTEN

Linked Data

• ClinVar Variation Id: 646152
• ClinVar RCV Id: RCV000800381 ; RCV002424846 ; RCV003453664
• dbSNP Id: rs1589665640

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960921dup , CM000672.2:g.87960921dup	GRCh38
NC_000010.10:g.89720678dup , CM000672.1:g.89720678dup	GRCh37
NC_000010.9:g.89710658dup	NCBI36
NG_007466.2:g.102483dup , LRG_311:g.102483dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.922dup	ENSP00000514759.2:p.Thr308AsnfsTer21
ENST00000710265.1:c.829dup	ENSP00000518161.1:p.Thr277AsnfsTer21
ENST00000472832.3:c.829dup	ENSP00000483066.2:p.Thr277AsnfsTer21
ENST00000688158.2:n.1564dup
ENST00000688922.2:c.*659dup	ENSP00000508742.2:n.*659dup
ENST00000700021.1:c.784dup	ENSP00000514757.1:p.Thr262AsnfsTer21
ENST00000700022.1:c.*168dup	ENSP00000514758.1:n.*168dup
ENST00000700023.1:n.1987dup
ENST00000700024.1:n.2221dup
ENST00000700025.1:n.1598dup
ENST00000700026.1:n.466dup
ENST00000700029.1:c.756dup
ENST00000706954.1:c.829dup	ENSP00000516674.1:p.Thr277AsnfsTer21
ENST00000706955.1:c.*864dup	ENSP00000516675.1:n.*864dup
ENST00000686459.1:c.*415dup	ENSP00000508909.1:n.*415dup
ENST00000688158.1:c.*940dup	ENSP00000509254.1:n.*940dup
ENST00000688308.1:c.829dup	ENSP00000508752.1:p.Thr277AsnfsTer21
ENST00000688922.1:c.750dup
ENST00000693560.1:c.1348dup	ENSP00000509861.1:p.Thr450AsnfsTer21
ENST00000371953.8:c.829dup MANE Select	ENSP00000361021.3:p.Thr277AsnfsTer21
ENST00000371953.7:c.829dup	ENSP00000361021.3:p.Thr277AsnfsTer21
ENST00000472832.2:c.256dup	ENSP00000483066.1:p.Thr86AsnfsTer21
NM_000314.5:c.829dup	NP_000305.3:p.Thr277AsnfsTer21
NM_000314.6:c.829dup	NP_000305.3:p.Thr277AsnfsTer21
NM_001304717.2:c.1348dup	NP_001291646.2:p.Thr450AsnfsTer21
NM_001304718.1:c.238dup	NP_001291647.1:p.Thr80AsnfsTer21
XM_006717926.2:c.784dup	XP_006717989.1:p.Thr262AsnfsTer21
XM_011539981.1:c.829dup	XP_011538283.1:p.Thr277AsnfsTer21
XM_011539982.1:c.733dup	XP_011538284.1:p.Thr245AsnfsTer21
XR_945791.1:n.1399dup
NM_000314.7:c.829dup	NP_000305.3:p.Thr277AsnfsTer21
NM_001304717.5:c.1348dup	NP_001291646.4:p.Thr450AsnfsTer21
NM_001304718.2:c.238dup	NP_001291647.1:p.Thr80AsnfsTer21
NM_000314.8:c.829dup MANE Select	NP_000305.3:p.Thr277AsnfsTer21