Canonical Allele Identifier: CA2695200971

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2673959
• ClinVar RCV Id: RCV003450566

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961095_87961111del , CM000672.2:g.87961095_87961111del	GRCh38
NC_000010.10:g.89720852_89720868del , CM000672.1:g.89720852_89720868del	GRCh37
NC_000010.9:g.89710832_89710848del	NCBI36
NG_007466.2:g.102657_102673del , LRG_311:g.102657_102673del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.1096_1112del	ENSP00000514759.2:p.Arg366PhefsTer2
ENST00000710265.1:c.1003_1019del	ENSP00000518161.1:p.Arg335PhefsTer2
ENST00000472832.3:c.1003_1019del	ENSP00000483066.2:p.Arg335PhefsTer2
ENST00000688158.2:n.1738_1754del
ENST00000688922.2:c.*833_*849del	ENSP00000508742.2:n.*833_*849del
ENST00000700021.1:c.958_974del	ENSP00000514757.1:p.Arg320PhefsTer2
ENST00000700022.1:c.*342_*358del	ENSP00000514758.1:n.*342_*358del
ENST00000700023.1:n.2161_2177del
ENST00000700024.1:n.2395_2411del
ENST00000700025.1:n.1772_1788del
ENST00000700026.1:n.640_656del
ENST00000706954.1:c.1003_1019del	ENSP00000516674.1:p.Arg335PhefsTer2
ENST00000706955.1:c.*1038_*1054del	ENSP00000516675.1:n.*1038_*1054del
ENST00000686459.1:c.*589_*605del	ENSP00000508909.1:n.*589_*605del
ENST00000688158.1:c.*1114_*1130del	ENSP00000509254.1:n.*1114_*1130del
ENST00000688308.1:c.1003_1019del	ENSP00000508752.1:p.Arg335PhefsTer2
ENST00000688922.1:c.924_940del
ENST00000693560.1:c.1522_1538del	ENSP00000509861.1:p.Arg508PhefsTer2
ENST00000371953.8:c.1003_1019del MANE Select	ENSP00000361021.3:p.Arg335PhefsTer2
ENST00000371953.7:c.1003_1019del	ENSP00000361021.3:p.Arg335PhefsTer2
ENST00000472832.2:c.430_446del	ENSP00000483066.1:p.Arg144PhefsTer2
NM_000314.5:c.1003_1019del	NP_000305.3:p.Arg335PhefsTer2
NM_000314.6:c.1003_1019del	NP_000305.3:p.Arg335PhefsTer2
NM_001304717.2:c.1522_1538del	NP_001291646.2:p.Arg508PhefsTer2
NM_001304718.1:c.412_428del	NP_001291647.1:p.Arg138PhefsTer2
XM_006717926.2:c.958_974del	XP_006717989.1:p.Arg320PhefsTer2
XM_011539981.1:c.1003_1019del	XP_011538283.1:p.Arg335PhefsTer2
XM_011539982.1:c.907_923del	XP_011538284.1:p.Arg303PhefsTer2
XR_945791.1:n.1573_1589del
NM_000314.7:c.1003_1019del	NP_000305.3:p.Arg335PhefsTer2
NM_001304717.5:c.1522_1538del	NP_001291646.4:p.Arg508PhefsTer2
NM_001304718.2:c.412_428del	NP_001291647.1:p.Arg138PhefsTer2
NM_000314.8:c.1003_1019del MANE Select	NP_000305.3:p.Arg335PhefsTer2