Canonical Allele Identifier: CA645545323
Gene: PTEN HGNC NCBI

Linked Data

COSMIC: COSM220113

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965457_87965473del , CM000672.2:g.87965457_87965473del GRCh38
NC_000010.10:g.89725214_89725230del , CM000672.1:g.89725214_89725230del GRCh37
NC_000010.9:g.89715194_89715210del NCBI36
NG_007466.2:g.107019_107035del , LRG_311:g.107019_107035del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1290_*1del ENSP00000514759.2:n.[c.1290_*1del;Gln430HisfsTer17]
ENST00000710265.1:c.*226_*242del ENSP00000518161.1:n.*226_*242del
ENST00000688158.2:n.1932_1948del
ENST00000688922.2:c.*1027_*1043del ENSP00000508742.2:n.*1027_*1043del
ENST00000700021.1:c.1152_*1del ENSP00000514757.1:n.[c.1152_*1del;Gln384HisfsTer17]
ENST00000700022.1:c.*536_*552del ENSP00000514758.1:n.*536_*552del
ENST00000700023.1:n.2355_2371del
ENST00000700024.1:n.2589_2605del
ENST00000706954.1:c.1197_*1del ENSP00000516674.1:n.[c.1197_*1del;Gln399HisfsTer17]
ENST00000706955.1:c.*1232_*1248del ENSP00000516675.1:n.*1232_*1248del
ENST00000686459.1:c.*783_*799del ENSP00000508909.1:n.*783_*799del
ENST00000688158.1:c.*1308_*1324del ENSP00000509254.1:n.*1308_*1324del
ENST00000688308.1:c.1197_*1del ENSP00000508752.1:n.[c.1197_*1del;Gln399HisfsTer17]
ENST00000688922.1:c.1118_1134del
ENST00000693560.1:c.1716_*1del ENSP00000509861.1:n.[c.1716_*1del;Gln572HisfsTer17]
ENST00000371953.8:c.1197_*1del MANE Select ENSP00000361021.3:n.[c.1197_*1del;Gln399HisfsTer17]
ENST00000371953.7:c.1197_*1del ENSP00000361021.3:n.[c.1197_*1del;Gln399HisfsTer17]
NM_000314.5:c.1197_*1del NP_000305.3:n.[c.1197_*1del;Gln399HisfsTer17]
NM_000314.6:c.1197_*1del NP_000305.3:n.[c.1197_*1del;Gln399HisfsTer17]
NM_001304717.2:c.1716_*1del NP_001291646.2:n.[c.1716_*1del;Gln572HisfsTer17]
NM_001304718.1:c.606_*1del NP_001291647.1:n.[c.606_*1del;Gln202HisfsTer17]
XM_006717926.2:c.1152_*1del XP_006717989.1:n.[c.1152_*1del;Gln384HisfsTer17]
XM_011539982.1:c.1101_*1del XP_011538284.1:n.[c.1101_*1del;Gln367HisfsTer17]
XR_945791.1:n.1767_1783del
NM_000314.7:c.1197_*1del NP_000305.3:n.[c.1197_*1del;Gln399HisfsTer17]
NM_001304717.5:c.1716_*1del NP_001291646.4:n.[c.1716_*1del;Gln572HisfsTer17]
NM_001304718.2:c.606_*1del NP_001291647.1:n.[c.606_*1del;Gln202HisfsTer17]
NM_000314.8:c.1197_*1del MANE Select NP_000305.3:n.[c.1197_*1del;Gln399HisfsTer17]