Canonical Allele Identifier: CA645369422

Gene: PTEN

Linked Data

• ClinVar Variation Id: 428206
• ClinVar RCV Id: RCV000491342 ; RCV000790895
• dbSNP Id: rs1114167632
• MyVariant Identifiers: chr10:g.89711894dup (hg19) ; chr10:g.87952137dup (hg38)
• ERepo: CA645369422/MONDO:0017623/003

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952137dup , CM000672.2:g.87952137dup	GRCh38
NC_000010.10:g.89711894dup , CM000672.1:g.89711894dup	GRCh37
NC_000010.9:g.89701874dup	NCBI36
NG_007466.2:g.93699dup , LRG_311:g.93699dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.512dup	ENSP00000514759.2:p.Arg172GlufsTer8
ENST00000710265.1:c.512dup	ENSP00000518161.1:p.Arg172GlufsTer8
ENST00000472832.3:c.512dup	ENSP00000483066.2:p.Arg172GlufsTer8
ENST00000688158.2:n.1247dup
ENST00000688922.2:c.*342dup	ENSP00000508742.2:n.*342dup
ENST00000700021.1:c.467dup	ENSP00000514757.1:p.Arg157GlufsTer8
ENST00000700022.1:c.493-5716dup	ENSP00000514758.1:n.493-5716dup
ENST00000700023.1:n.1670dup
ENST00000700024.1:n.1904dup
ENST00000700025.1:n.1281dup
ENST00000700029.1:c.346dup
ENST00000706954.1:c.512dup	ENSP00000516674.1:p.Arg172GlufsTer8
ENST00000706955.1:c.*547dup	ENSP00000516675.1:n.*547dup
ENST00000686459.1:c.*98dup	ENSP00000508909.1:n.*98dup
ENST00000688158.1:c.*623dup	ENSP00000509254.1:n.*623dup
ENST00000688308.1:c.512dup	ENSP00000508752.1:p.Arg172GlufsTer8
ENST00000688922.1:c.433dup
ENST00000693560.1:c.1031dup	ENSP00000509861.1:p.Arg345GlufsTer8
ENST00000371953.8:c.512dup MANE Select	ENSP00000361021.3:p.Arg172GlufsTer8
ENST00000371953.7:c.512dup	ENSP00000361021.3:p.Arg172GlufsTer8
NM_000314.5:c.512dup	NP_000305.3:p.Arg172GlufsTer8
NM_000314.6:c.512dup	NP_000305.3:p.Arg172GlufsTer8
NM_001304717.2:c.1031dup	NP_001291646.2:p.Arg345GlufsTer8
NM_001304718.1:c.-80dup	NP_001291647.1:n.-80dup
XM_006717926.2:c.467dup	XP_006717989.1:p.Arg157GlufsTer8
XM_011539981.1:c.512dup	XP_011538283.1:p.Arg172GlufsTer8
XM_011539982.1:c.416dup	XP_011538284.1:p.Arg140GlufsTer8
XR_945789.1:n.1383dup
XR_945790.1:n.1500dup
XR_945791.1:n.1205-5716dup
NM_000314.7:c.512dup	NP_000305.3:p.Arg172GlufsTer8
NM_001304717.5:c.1031dup	NP_001291646.4:p.Arg345GlufsTer8
NM_001304718.2:c.-80dup	NP_001291647.1:n.-80dup
NM_000314.8:c.512dup MANE Select	NP_000305.3:p.Arg172GlufsTer8