Canonical Allele Identifier: CA2573145739

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1458563
• ClinVar RCV Id: RCV001975017
• dbSNP Id: rs2132269032

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952136dup , CM000672.2:g.87952136dup	GRCh38
NC_000010.10:g.89711893dup , CM000672.1:g.89711893dup	GRCh37
NC_000010.9:g.89701873dup	NCBI36
NG_007466.2:g.93698dup , LRG_311:g.93698dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.511dup	ENSP00000514759.2:p.Gln171ProfsTer9
ENST00000710265.1:c.511dup	ENSP00000518161.1:p.Gln171ProfsTer9
ENST00000472832.3:c.511dup	ENSP00000483066.2:p.Gln171ProfsTer9
ENST00000688158.2:n.1246dup
ENST00000688922.2:c.*341dup	ENSP00000508742.2:n.*341dup
ENST00000700021.1:c.466dup	ENSP00000514757.1:p.Gln156ProfsTer9
ENST00000700022.1:c.493-5717dup	ENSP00000514758.1:n.493-5717dup
ENST00000700023.1:n.1669dup
ENST00000700024.1:n.1903dup
ENST00000700025.1:n.1280dup
ENST00000700029.1:c.345dup
ENST00000706954.1:c.511dup	ENSP00000516674.1:p.Gln171ProfsTer9
ENST00000706955.1:c.*546dup	ENSP00000516675.1:n.*546dup
ENST00000686459.1:c.*97dup	ENSP00000508909.1:n.*97dup
ENST00000688158.1:c.*622dup	ENSP00000509254.1:n.*622dup
ENST00000688308.1:c.511dup	ENSP00000508752.1:p.Gln171ProfsTer9
ENST00000688922.1:c.432dup
ENST00000693560.1:c.1030dup	ENSP00000509861.1:p.Gln344ProfsTer9
ENST00000371953.8:c.511dup MANE Select	ENSP00000361021.3:p.Gln171ProfsTer9
ENST00000371953.7:c.511dup	ENSP00000361021.3:p.Gln171ProfsTer9
NM_000314.5:c.511dup	NP_000305.3:p.Gln171ProfsTer9
NM_000314.6:c.511dup	NP_000305.3:p.Gln171ProfsTer9
NM_001304717.2:c.1030dup	NP_001291646.2:p.Gln344ProfsTer9
NM_001304718.1:c.-81dup	NP_001291647.1:n.-81dup
XM_006717926.2:c.466dup	XP_006717989.1:p.Gln156ProfsTer9
XM_011539981.1:c.511dup	XP_011538283.1:p.Gln171ProfsTer9
XM_011539982.1:c.415dup	XP_011538284.1:p.Gln139ProfsTer9
XR_945789.1:n.1382dup
XR_945790.1:n.1499dup
XR_945791.1:n.1205-5717dup
NM_000314.7:c.511dup	NP_000305.3:p.Gln171ProfsTer9
NM_001304717.5:c.1030dup	NP_001291646.4:p.Gln344ProfsTer9
NM_001304718.2:c.-81dup	NP_001291647.1:n.-81dup
NM_000314.8:c.511dup MANE Select	NP_000305.3:p.Gln171ProfsTer9