Canonical Allele Identifier: CA645553886

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2577268
• ClinVar RCV Id: RCV003324345 ; RCV003455800
• COSMIC: COSM6006451

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952135_87952138del , CM000672.2:g.87952135_87952138del	GRCh38
NC_000010.10:g.89711892_89711895del , CM000672.1:g.89711892_89711895del	GRCh37
NC_000010.9:g.89701872_89701875del	NCBI36
NG_007466.2:g.93697_93700del , LRG_311:g.93697_93700del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.510_513del	ENSP00000514759.2:p.Ser170ArgfsTer12
ENST00000710265.1:c.510_513del	ENSP00000518161.1:p.Ser170ArgfsTer12
ENST00000472832.3:c.510_513del	ENSP00000483066.2:p.Ser170ArgfsTer12
ENST00000688158.2:n.1245_1248del
ENST00000688922.2:c.*340_*343del	ENSP00000508742.2:n.*340_*343del
ENST00000700021.1:c.465_468del	ENSP00000514757.1:p.Ser155ArgfsTer12
ENST00000700022.1:c.493-5718_493-5715del	ENSP00000514758.1:n.493-5718_493-5715del
ENST00000700023.1:n.1668_1671del
ENST00000700024.1:n.1902_1905del
ENST00000700025.1:n.1279_1282del
ENST00000700029.1:c.344_347del
ENST00000706954.1:c.510_513del	ENSP00000516674.1:p.Ser170ArgfsTer12
ENST00000706955.1:c.*545_*548del	ENSP00000516675.1:n.*545_*548del
ENST00000686459.1:c.*96_*99del	ENSP00000508909.1:n.*96_*99del
ENST00000688158.1:c.*621_*624del	ENSP00000509254.1:n.*621_*624del
ENST00000688308.1:c.510_513del	ENSP00000508752.1:p.Ser170ArgfsTer12
ENST00000688922.1:c.431_434del
ENST00000693560.1:c.1029_1032del	ENSP00000509861.1:p.Ser343ArgfsTer12
ENST00000371953.8:c.510_513del MANE Select	ENSP00000361021.3:p.Ser170ArgfsTer12
ENST00000371953.7:c.510_513del	ENSP00000361021.3:p.Ser170ArgfsTer12
NM_000314.5:c.510_513del	NP_000305.3:p.Ser170ArgfsTer12
NM_000314.6:c.510_513del	NP_000305.3:p.Ser170ArgfsTer12
NM_001304717.2:c.1029_1032del	NP_001291646.2:p.Ser343ArgfsTer12
NM_001304718.1:c.-82_-79del	NP_001291647.1:n.-82_-79del
XM_006717926.2:c.465_468del	XP_006717989.1:p.Ser155ArgfsTer12
XM_011539981.1:c.510_513del	XP_011538283.1:p.Ser170ArgfsTer12
XM_011539982.1:c.414_417del	XP_011538284.1:p.Ser138ArgfsTer12
XR_945789.1:n.1381_1384del
XR_945790.1:n.1498_1501del
XR_945791.1:n.1205-5718_1205-5715del
NM_000314.7:c.510_513del	NP_000305.3:p.Ser170ArgfsTer12
NM_001304717.5:c.1029_1032del	NP_001291646.4:p.Ser343ArgfsTer12
NM_001304718.2:c.-82_-79del	NP_001291647.1:n.-82_-79del
NM_000314.8:c.510_513del MANE Select	NP_000305.3:p.Ser170ArgfsTer12