Canonical Allele Identifier: CA645554134

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2673921
• ClinVar RCV Id: RCV003450535
• COSMIC: COSM6024353

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961091dup , CM000672.2:g.87961091dup	GRCh38
NC_000010.10:g.89720848dup , CM000672.1:g.89720848dup	GRCh37
NC_000010.9:g.89710828dup	NCBI36
NG_007466.2:g.102653dup , LRG_311:g.102653dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.1092dup	ENSP00000514759.2:p.Asn365GlnfsTer9
ENST00000710265.1:c.999dup	ENSP00000518161.1:p.Asn334GlnfsTer9
ENST00000472832.3:c.999dup	ENSP00000483066.2:p.Asn334GlnfsTer9
ENST00000688158.2:n.1734dup
ENST00000688922.2:c.*829dup	ENSP00000508742.2:n.*829dup
ENST00000700021.1:c.954dup	ENSP00000514757.1:p.Asn319GlnfsTer9
ENST00000700022.1:c.*338dup	ENSP00000514758.1:n.*338dup
ENST00000700023.1:n.2157dup
ENST00000700024.1:n.2391dup
ENST00000700025.1:n.1768dup
ENST00000700026.1:n.636dup
ENST00000706954.1:c.999dup	ENSP00000516674.1:p.Asn334GlnfsTer9
ENST00000706955.1:c.*1034dup	ENSP00000516675.1:n.*1034dup
ENST00000686459.1:c.*585dup	ENSP00000508909.1:n.*585dup
ENST00000688158.1:c.*1110dup	ENSP00000509254.1:n.*1110dup
ENST00000688308.1:c.999dup	ENSP00000508752.1:p.Asn334GlnfsTer9
ENST00000688922.1:c.920dup
ENST00000693560.1:c.1518dup	ENSP00000509861.1:p.Asn507GlnfsTer9
ENST00000371953.8:c.999dup MANE Select	ENSP00000361021.3:p.Asn334GlnfsTer9
ENST00000371953.7:c.999dup	ENSP00000361021.3:p.Asn334GlnfsTer9
ENST00000472832.2:c.426dup	ENSP00000483066.1:p.Asn143GlnfsTer9
NM_000314.5:c.999dup	NP_000305.3:p.Asn334GlnfsTer9
NM_000314.6:c.999dup	NP_000305.3:p.Asn334GlnfsTer9
NM_001304717.2:c.1518dup	NP_001291646.2:p.Asn507GlnfsTer9
NM_001304718.1:c.408dup	NP_001291647.1:p.Asn137GlnfsTer9
XM_006717926.2:c.954dup	XP_006717989.1:p.Asn319GlnfsTer9
XM_011539981.1:c.999dup	XP_011538283.1:p.Asn334GlnfsTer9
XM_011539982.1:c.903dup	XP_011538284.1:p.Asn302GlnfsTer9
XR_945791.1:n.1569dup
NM_000314.7:c.999dup	NP_000305.3:p.Asn334GlnfsTer9
NM_001304717.5:c.1518dup	NP_001291646.4:p.Asn507GlnfsTer9
NM_001304718.2:c.408dup	NP_001291647.1:p.Asn137GlnfsTer9
NM_000314.8:c.999dup MANE Select	NP_000305.3:p.Asn334GlnfsTer9