Canonical Allele Identifier: CA470973966

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1764662
• ClinVar RCV Id: RCV002373668
• COSMIC: COSM28914
• MyVariant Identifiers: chr10:g.89720727del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960970del , CM000672.2:g.87960970del	GRCh38
NC_000010.10:g.89720727del , CM000672.1:g.89720727del	GRCh37
NC_000010.9:g.89710707del	NCBI36
NG_007466.2:g.102532del , LRG_311:g.102532del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.971del	ENSP00000514759.2:p.Gly324GlufsTer14
ENST00000710265.1:c.878del	ENSP00000518161.1:p.Gly293GlufsTer14
ENST00000472832.3:c.878del	ENSP00000483066.2:p.Gly293GlufsTer14
ENST00000688158.2:n.1613del
ENST00000688922.2:c.*708del	ENSP00000508742.2:n.*708del
ENST00000700021.1:c.833del	ENSP00000514757.1:p.Gly278GlufsTer14
ENST00000700022.1:c.*217del	ENSP00000514758.1:n.*217del
ENST00000700023.1:n.2036del
ENST00000700024.1:n.2270del
ENST00000700025.1:n.1647del
ENST00000700026.1:n.515del
ENST00000700029.1:c.805del
ENST00000706954.1:c.878del	ENSP00000516674.1:p.Gly293GlufsTer14
ENST00000706955.1:c.*913del	ENSP00000516675.1:n.*913del
ENST00000686459.1:c.*464del	ENSP00000508909.1:n.*464del
ENST00000688158.1:c.*989del	ENSP00000509254.1:n.*989del
ENST00000688308.1:c.878del	ENSP00000508752.1:p.Gly293GlufsTer14
ENST00000688922.1:c.799del
ENST00000693560.1:c.1397del	ENSP00000509861.1:p.Gly466GlufsTer14
ENST00000371953.8:c.878del MANE Select	ENSP00000361021.3:p.Gly293GlufsTer14
ENST00000371953.7:c.878del	ENSP00000361021.3:p.Gly293GlufsTer14
ENST00000472832.2:c.305del	ENSP00000483066.1:p.Gly102GlufsTer14
NM_000314.5:c.878del	NP_000305.3:p.Gly293GlufsTer14
NM_000314.6:c.878del	NP_000305.3:p.Gly293GlufsTer14
NM_001304717.2:c.1397del	NP_001291646.2:p.Gly466GlufsTer14
NM_001304718.1:c.287del	NP_001291647.1:p.Gly96GlufsTer14
XM_006717926.2:c.833del	XP_006717989.1:p.Gly278GlufsTer14
XM_011539981.1:c.878del	XP_011538283.1:p.Gly293GlufsTer14
XM_011539982.1:c.782del	XP_011538284.1:p.Gly261GlufsTer14
XR_945791.1:n.1448del
NM_000314.7:c.878del	NP_000305.3:p.Gly293GlufsTer14
NM_001304717.5:c.1397del	NP_001291646.4:p.Gly466GlufsTer14
NM_001304718.2:c.287del	NP_001291647.1:p.Gly96GlufsTer14
NM_000314.8:c.878del MANE Select	NP_000305.3:p.Gly293GlufsTer14