Canonical Allele Identifier: CA891841293
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952148_87952149delinsAA , CM000672.2:g.87952148_87952149delinsAA GRCh38
NC_000010.10:g.89711905_89711906delinsAA , CM000672.1:g.89711905_89711906delinsAA GRCh37
NC_000010.9:g.89701885_89701886delinsAA NCBI36
NG_007466.2:g.93710_93711delinsAA , LRG_311:g.93710_93711delinsAA

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.523_524delinsAA ENSP00000514759.2:p.Val175Lys
ENST00000710265.1:c.523_524delinsAA ENSP00000518161.1:p.Val175Lys
ENST00000472832.3:c.523_524delinsAA ENSP00000483066.2:p.Val175Lys
ENST00000688158.2:n.1258_1259delinsAA
ENST00000688922.2:c.*353_*354delinsAA ENSP00000508742.2:n.*353_*354delinsAA
ENST00000700021.1:c.478_479delinsAA ENSP00000514757.1:p.Val160Lys
ENST00000700022.1:c.493-5705_493-5704delinsAA ENSP00000514758.1:n.493-5705_493-5704deli...
ENST00000700023.1:n.1681_1682delinsAA
ENST00000700024.1:n.1915_1916delinsAA
ENST00000700025.1:n.1292_1293delinsAA
ENST00000700029.1:c.357_358delinsAA
ENST00000706954.1:c.523_524delinsAA ENSP00000516674.1:p.Val175Lys
ENST00000706955.1:c.*558_*559delinsAA ENSP00000516675.1:n.*558_*559delinsAA
ENST00000686459.1:c.*109_*110delinsAA ENSP00000508909.1:n.*109_*110delinsAA
ENST00000688158.1:c.*634_*635delinsAA ENSP00000509254.1:n.*634_*635delinsAA
ENST00000688308.1:c.523_524delinsAA ENSP00000508752.1:p.Val175Lys
ENST00000688922.1:c.444_445delinsAA
ENST00000693560.1:c.1042_1043delinsAA ENSP00000509861.1:p.Val348Lys
ENST00000371953.8:c.523_524delinsAA MANE Select ENSP00000361021.3:p.Val175Lys
ENST00000371953.7:c.523_524delinsAA ENSP00000361021.3:p.Val175Lys
NM_000314.5:c.523_524delinsAA NP_000305.3:p.Val175Lys
NM_000314.6:c.523_524delinsAA NP_000305.3:p.Val175Lys
NM_001304717.2:c.1042_1043delinsAA NP_001291646.2:p.Val348Lys
NM_001304718.1:c.-69_-68delinsAA NP_001291647.1:n.-69_-68delinsAA
XM_006717926.2:c.478_479delinsAA XP_006717989.1:p.Val160Lys
XM_011539981.1:c.523_524delinsAA XP_011538283.1:p.Val175Lys
XM_011539982.1:c.427_428delinsAA XP_011538284.1:p.Val143Lys
XR_945789.1:n.1394_1395delinsAA
XR_945790.1:n.1511_1512delinsAA
XR_945791.1:n.1205-5705_1205-5704delinsAA
NM_000314.7:c.523_524delinsAA NP_000305.3:p.Val175Lys
NM_001304717.5:c.1042_1043delinsAA NP_001291646.4:p.Val348Lys
NM_001304718.2:c.-69_-68delinsAA NP_001291647.1:n.-69_-68delinsAA
NM_000314.8:c.523_524delinsAA MANE Select NP_000305.3:p.Val175Lys