Canonical Allele Identifier: CA2499220446

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1073577
• ClinVar RCV Id: RCV001386611
• dbSNP Id: rs2132145483

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87864486_87864489dup , CM000672.2:g.87864486_87864489dup	GRCh38
NC_000010.10:g.89624243_89624246dup , CM000672.1:g.89624243_89624246dup	GRCh37
NC_000010.9:g.89614223_89614226dup	NCBI36
NG_007466.2:g.6048_6051dup , LRG_311:g.6048_6051dup
NG_033079.1:g.3950_3953dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.17_20dup	ENSP00000514759.2:p.Ile8ArgfsTer4
ENST00000710265.1:c.17_20dup	ENSP00000518161.1:p.Ile8ArgfsTer4
ENST00000472832.3:c.17_20dup	ENSP00000483066.2:p.Ile8ArgfsTer4
ENST00000688922.2:c.17_20dup	ENSP00000508742.2:p.Ile8ArgfsTer4
ENST00000700021.1:c.17_20dup	ENSP00000514757.1:p.Ile8ArgfsTer4
ENST00000700022.1:c.17_20dup	ENSP00000514758.1:p.Ile8ArgfsTer4
ENST00000706954.1:c.17_20dup	ENSP00000516674.1:p.Ile8ArgfsTer4
ENST00000706955.1:c.17_20dup	ENSP00000516675.1:p.Ile8ArgfsTer4
ENST00000686459.1:c.17_20dup	ENSP00000508909.1:p.Ile8ArgfsTer4
ENST00000688158.1:c.17_20dup	ENSP00000509254.1:p.Ile8ArgfsTer4
ENST00000688308.1:c.17_20dup	ENSP00000508752.1:p.Ile8ArgfsTer4
ENST00000693560.1:c.536_539dup	ENSP00000509861.1:p.Ile181ArgfsTer4
ENST00000371953.8:c.17_20dup MANE Select	ENSP00000361021.3:p.Ile8ArgfsTer4
ENST00000371953.7:c.17_20dup	ENSP00000361021.3:p.Ile8ArgfsTer4
ENST00000462694.1:n.19_22dup
ENST00000487939.1:n.38_41dup
ENST00000610634.1:c.-86_-83dup	ENSP00000477517.1:n.-86_-83dup
NM_000314.5:c.17_20dup	NP_000305.3:p.Ile8ArgfsTer4
NM_000314.6:c.17_20dup	NP_000305.3:p.Ile8ArgfsTer4
NM_001304717.2:c.536_539dup	NP_001291646.2:p.Ile181ArgfsTer4
NM_001304718.1:c.-689_-686dup	NP_001291647.1:n.-689_-686dup
XM_006717926.2:c.17_20dup	XP_006717989.1:p.Ile8ArgfsTer4
XM_011539981.1:c.17_20dup	XP_011538283.1:p.Ile8ArgfsTer4
XR_945789.1:n.729_732dup
XR_945790.1:n.729_732dup
XR_945791.1:n.729_732dup
NM_000314.7:c.17_20dup	NP_000305.3:p.Ile8ArgfsTer4
NM_001304717.5:c.536_539dup	NP_001291646.4:p.Ile181ArgfsTer4
NM_001304718.2:c.-689_-686dup	NP_001291647.1:n.-689_-686dup
NM_000314.8:c.17_20dup MANE Select	NP_000305.3:p.Ile8ArgfsTer4