Canonical Allele Identifier: CA300542

Gene: PTEN

Linked Data

• ClinVar Variation Id: 189440
• ClinVar RCV Id: RCV000169833 ; RCV000801646 ; RCV003454437
• dbSNP Id: rs786204892
• COSMIC: COSM5008 ; COSM921151
• MyVariant Identifiers: chr10:g.89720804dupA (hg19) ; chr10:g.89720804_89720805insA (hg19) ; chr10:g.87961047dupA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961047dup , CM000672.2:g.87961047dup	GRCh38
NC_000010.10:g.89720804dup , CM000672.1:g.89720804dup	GRCh37
NC_000010.9:g.89710784dup	NCBI36
NG_007466.2:g.102609dup , LRG_311:g.102609dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1048dup	ENSP00000514759.2:p.Thr350AsnfsTer6
ENST00000710265.1:c.955dup	ENSP00000518161.1:p.Thr319AsnfsTer6
ENST00000472832.3:c.955dup	ENSP00000483066.2:p.Thr319AsnfsTer6
ENST00000688158.2:n.1690dup
ENST00000688922.2:c.*785dup	ENSP00000508742.2:n.*785dup
ENST00000700021.1:c.910dup	ENSP00000514757.1:p.Thr304AsnfsTer6
ENST00000700022.1:c.*294dup	ENSP00000514758.1:n.*294dup
ENST00000700023.1:n.2113dup
ENST00000700024.1:n.2347dup
ENST00000700025.1:n.1724dup
ENST00000700026.1:n.592dup
ENST00000706954.1:c.955dup	ENSP00000516674.1:p.Thr319AsnfsTer6
ENST00000706955.1:c.*990dup	ENSP00000516675.1:n.*990dup
ENST00000686459.1:c.*541dup	ENSP00000508909.1:n.*541dup
ENST00000688158.1:c.*1066dup	ENSP00000509254.1:n.*1066dup
ENST00000688308.1:c.955dup	ENSP00000508752.1:p.Thr319AsnfsTer6
ENST00000688922.1:c.876dup
ENST00000693560.1:c.1474dup	ENSP00000509861.1:p.Thr492AsnfsTer6
ENST00000371953.8:c.955dup MANE Select	ENSP00000361021.3:p.Thr319AsnfsTer6
ENST00000371953.7:c.955dup	ENSP00000361021.3:p.Thr319AsnfsTer6
ENST00000472832.2:c.382dup	ENSP00000483066.1:p.Thr128AsnfsTer6
NM_000314.5:c.955dup	NP_000305.3:p.Thr319AsnfsTer6
NM_000314.6:c.955dup	NP_000305.3:p.Thr319AsnfsTer6
NM_001304717.2:c.1474dup	NP_001291646.2:p.Thr492AsnfsTer6
NM_001304718.1:c.364dup	NP_001291647.1:p.Thr122AsnfsTer6
XM_006717926.2:c.910dup	XP_006717989.1:p.Thr304AsnfsTer6
XM_011539981.1:c.955dup	XP_011538283.1:p.Thr319AsnfsTer6
XM_011539982.1:c.859dup	XP_011538284.1:p.Thr287AsnfsTer6
XR_945791.1:n.1525dup
NM_000314.7:c.955dup	NP_000305.3:p.Thr319AsnfsTer6
NM_001304717.5:c.1474dup	NP_001291646.4:p.Thr492AsnfsTer6
NM_001304718.2:c.364dup	NP_001291647.1:p.Thr122AsnfsTer6
NM_000314.8:c.955dup MANE Select	NP_000305.3:p.Thr319AsnfsTer6