Canonical Allele Identifier: CA2695200923
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2674410
ClinVar RCV Id: RCV003452606

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952142_87952148del , CM000672.2:g.87952142_87952148del GRCh38
NC_000010.10:g.89711899_89711905del , CM000672.1:g.89711899_89711905del GRCh37
NC_000010.9:g.89701879_89701885del NCBI36
NG_007466.2:g.93704_93710del , LRG_311:g.93704_93710del

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.517_523del ENSP00000514759.2:p.Arg173CysfsTer8
ENST00000710265.1:c.517_523del ENSP00000518161.1:p.Arg173CysfsTer8
ENST00000472832.3:c.517_523del ENSP00000483066.2:p.Arg173CysfsTer8
ENST00000688158.2:n.1252_1258del
ENST00000688922.2:c.*347_*353del ENSP00000508742.2:n.*347_*353del
ENST00000700021.1:c.472_478del ENSP00000514757.1:p.Arg158CysfsTer8
ENST00000700022.1:c.493-5711_493-5705del ENSP00000514758.1:n.493-5711_493-5705del
ENST00000700023.1:n.1675_1681del
ENST00000700024.1:n.1909_1915del
ENST00000700025.1:n.1286_1292del
ENST00000700029.1:c.351_357del
ENST00000706954.1:c.517_523del ENSP00000516674.1:p.Arg173CysfsTer8
ENST00000706955.1:c.*552_*558del ENSP00000516675.1:n.*552_*558del
ENST00000686459.1:c.*103_*109del ENSP00000508909.1:n.*103_*109del
ENST00000688158.1:c.*628_*634del ENSP00000509254.1:n.*628_*634del
ENST00000688308.1:c.517_523del ENSP00000508752.1:p.Arg173CysfsTer8
ENST00000688922.1:c.438_444del
ENST00000693560.1:c.1036_1042del ENSP00000509861.1:p.Arg346CysfsTer8
ENST00000371953.8:c.517_523del MANE Select ENSP00000361021.3:p.Arg173CysfsTer8
ENST00000371953.7:c.517_523del ENSP00000361021.3:p.Arg173CysfsTer8
NM_000314.5:c.517_523del NP_000305.3:p.Arg173CysfsTer8
NM_000314.6:c.517_523del NP_000305.3:p.Arg173CysfsTer8
NM_001304717.2:c.1036_1042del NP_001291646.2:p.Arg346CysfsTer8
NM_001304718.1:c.-75_-69del NP_001291647.1:n.-75_-69del
XM_006717926.2:c.472_478del XP_006717989.1:p.Arg158CysfsTer8
XM_011539981.1:c.517_523del XP_011538283.1:p.Arg173CysfsTer8
XM_011539982.1:c.421_427del XP_011538284.1:p.Arg141CysfsTer8
XR_945789.1:n.1388_1394del
XR_945790.1:n.1505_1511del
XR_945791.1:n.1205-5711_1205-5705del
NM_000314.7:c.517_523del NP_000305.3:p.Arg173CysfsTer8
NM_001304717.5:c.1036_1042del NP_001291646.4:p.Arg346CysfsTer8
NM_001304718.2:c.-75_-69del NP_001291647.1:n.-75_-69del
NM_000314.8:c.517_523del MANE Select NP_000305.3:p.Arg173CysfsTer8