Canonical Allele Identifier: CA470974123

Gene: PTEN

Linked Data

• dbSNP Id: rs2132283619
• COSMIC: COSM17565
• MyVariant Identifiers: chr10:g.89720855_89720856insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961099dup , CM000672.2:g.87961099dup	GRCh38
NC_000010.10:g.89720856dup , CM000672.1:g.89720856dup	GRCh37
NC_000010.9:g.89710836dup	NCBI36
NG_007466.2:g.102661dup , LRG_311:g.102661dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.1100dup	ENSP00000514759.2:p.Tyr367Ter
ENST00000710265.1:c.1007dup	ENSP00000518161.1:p.Tyr336Ter
ENST00000472832.3:c.1007dup	ENSP00000483066.2:p.Tyr336Ter
ENST00000688158.2:n.1742dup
ENST00000688922.2:c.*837dup	ENSP00000508742.2:n.*837dup
ENST00000700021.1:c.962dup	ENSP00000514757.1:p.Tyr321Ter
ENST00000700022.1:c.*346dup	ENSP00000514758.1:n.*346dup
ENST00000700023.1:n.2165dup
ENST00000700024.1:n.2399dup
ENST00000700025.1:n.1776dup
ENST00000700026.1:n.644dup
ENST00000706954.1:c.1007dup	ENSP00000516674.1:p.Tyr336Ter
ENST00000706955.1:c.*1042dup	ENSP00000516675.1:n.*1042dup
ENST00000686459.1:c.*593dup	ENSP00000508909.1:n.*593dup
ENST00000688158.1:c.*1118dup	ENSP00000509254.1:n.*1118dup
ENST00000688308.1:c.1007dup	ENSP00000508752.1:p.Tyr336Ter
ENST00000688922.1:c.928dup
ENST00000693560.1:c.1526dup	ENSP00000509861.1:p.Tyr509Ter
ENST00000371953.8:c.1007dup MANE Select	ENSP00000361021.3:p.Tyr336Ter
ENST00000371953.7:c.1007dup	ENSP00000361021.3:p.Tyr336Ter
ENST00000472832.2:c.434dup	ENSP00000483066.1:p.Tyr145Ter
NM_000314.5:c.1007dup	NP_000305.3:p.Tyr336Ter
NM_000314.6:c.1007dup	NP_000305.3:p.Tyr336Ter
NM_001304717.2:c.1526dup	NP_001291646.2:p.Tyr509Ter
NM_001304718.1:c.416dup	NP_001291647.1:p.Tyr139Ter
XM_006717926.2:c.962dup	XP_006717989.1:p.Tyr321Ter
XM_011539981.1:c.1007dup	XP_011538283.1:p.Tyr336Ter
XM_011539982.1:c.911dup	XP_011538284.1:p.Tyr304Ter
XR_945791.1:n.1577dup
NM_000314.7:c.1007dup	NP_000305.3:p.Tyr336Ter
NM_001304717.5:c.1526dup	NP_001291646.4:p.Tyr509Ter
NM_001304718.2:c.416dup	NP_001291647.1:p.Tyr139Ter
NM_000314.8:c.1007dup MANE Select	NP_000305.3:p.Tyr336Ter