Canonical Allele Identifier: CA2695200904

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2673965
• ClinVar RCV Id: RCV003450572

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960972dup , CM000672.2:g.87960972dup	GRCh38
NC_000010.10:g.89720729dup , CM000672.1:g.89720729dup	GRCh37
NC_000010.9:g.89710709dup	NCBI36
NG_007466.2:g.102534dup , LRG_311:g.102534dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.973dup	ENSP00000514759.2:p.Ser325LysfsTer4
ENST00000710265.1:c.880dup	ENSP00000518161.1:p.Ser294LysfsTer4
ENST00000472832.3:c.880dup	ENSP00000483066.2:p.Ser294LysfsTer4
ENST00000688158.2:n.1615dup
ENST00000688922.2:c.*710dup	ENSP00000508742.2:n.*710dup
ENST00000700021.1:c.835dup	ENSP00000514757.1:p.Ser279LysfsTer4
ENST00000700022.1:c.*219dup	ENSP00000514758.1:n.*219dup
ENST00000700023.1:n.2038dup
ENST00000700024.1:n.2272dup
ENST00000700025.1:n.1649dup
ENST00000700026.1:n.517dup
ENST00000706954.1:c.880dup	ENSP00000516674.1:p.Ser294LysfsTer4
ENST00000706955.1:c.*915dup	ENSP00000516675.1:n.*915dup
ENST00000686459.1:c.*466dup	ENSP00000508909.1:n.*466dup
ENST00000688158.1:c.*991dup	ENSP00000509254.1:n.*991dup
ENST00000688308.1:c.880dup	ENSP00000508752.1:p.Ser294LysfsTer4
ENST00000688922.1:c.801dup
ENST00000693560.1:c.1399dup	ENSP00000509861.1:p.Ser467LysfsTer4
ENST00000371953.8:c.880dup MANE Select	ENSP00000361021.3:p.Ser294LysfsTer4
ENST00000371953.7:c.880dup	ENSP00000361021.3:p.Ser294LysfsTer4
ENST00000472832.2:c.307dup	ENSP00000483066.1:p.Ser103LysfsTer4
NM_000314.5:c.880dup	NP_000305.3:p.Ser294LysfsTer4
NM_000314.6:c.880dup	NP_000305.3:p.Ser294LysfsTer4
NM_001304717.2:c.1399dup	NP_001291646.2:p.Ser467LysfsTer4
NM_001304718.1:c.289dup	NP_001291647.1:p.Ser97LysfsTer4
XM_006717926.2:c.835dup	XP_006717989.1:p.Ser279LysfsTer4
XM_011539981.1:c.880dup	XP_011538283.1:p.Ser294LysfsTer4
XM_011539982.1:c.784dup	XP_011538284.1:p.Ser262LysfsTer4
XR_945791.1:n.1450dup
NM_000314.7:c.880dup	NP_000305.3:p.Ser294LysfsTer4
NM_001304717.5:c.1399dup	NP_001291646.4:p.Ser467LysfsTer4
NM_001304718.2:c.289dup	NP_001291647.1:p.Ser97LysfsTer4
NM_000314.8:c.880dup MANE Select	NP_000305.3:p.Ser294LysfsTer4