Canonical Allele Identifier: CA2579926972
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933249_87933251del , CM000672.2:g.87933249_87933251del GRCh38
NC_000010.10:g.89693006_89693008del , CM000672.1:g.89693006_89693008del GRCh37
NC_000010.9:g.89682986_89682988del NCBI36
NG_007466.2:g.74811_74813del , LRG_311:g.74811_74813del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.490_492del ENSP00000514759.2:p.Lys164del
ENST00000710265.1:c.490_492del ENSP00000518161.1:p.Lys164del
ENST00000472832.3:c.490_492del ENSP00000483066.2:p.Lys164del
ENST00000688158.2:n.1225_1227del
ENST00000688922.2:c.*320_*322del ENSP00000508742.2:n.*320_*322del
ENST00000700021.1:c.445_447del ENSP00000514757.1:p.Lys149del
ENST00000700022.1:c.490_492del ENSP00000514758.1:p.Lys164del
ENST00000700029.1:c.324_326del
ENST00000706954.1:c.490_492del ENSP00000516674.1:p.Lys164del
ENST00000706955.1:c.*525_*527del ENSP00000516675.1:n.*525_*527del
ENST00000686459.1:c.490_492del ENSP00000508909.1:p.Lys164del
ENST00000688158.1:c.*601_*603del ENSP00000509254.1:n.*601_*603del
ENST00000688308.1:c.490_492del ENSP00000508752.1:p.Lys164del
ENST00000688922.1:c.411_413del
ENST00000693560.1:c.1009_1011del ENSP00000509861.1:p.Lys337del
ENST00000371953.8:c.490_492del MANE Select ENSP00000361021.3:p.Lys164del
ENST00000371953.7:c.490_492del ENSP00000361021.3:p.Lys164del
ENST00000498703.1:n.316_318del
ENST00000610634.1:c.388_390del ENSP00000477517.1:p.Lys130del
NM_000314.5:c.490_492del NP_000305.3:p.Lys164del
NM_000314.6:c.490_492del NP_000305.3:p.Lys164del
NM_001304717.2:c.1009_1011del NP_001291646.2:p.Lys337del
NM_001304718.1:c.-261_-259del NP_001291647.1:n.-261_-259del
XM_006717926.2:c.445_447del XP_006717989.1:p.Lys149del
XM_011539981.1:c.490_492del XP_011538283.1:p.Lys164del
XM_011539982.1:c.394_396del XP_011538284.1:p.Lys132del
XR_945789.1:n.1202_1204del
XR_945790.1:n.1202_1204del
XR_945791.1:n.1202_1204del
NM_000314.7:c.490_492del NP_000305.3:p.Lys164del
NM_001304717.5:c.1009_1011del NP_001291646.4:p.Lys337del
NM_001304718.2:c.-261_-259del NP_001291647.1:n.-261_-259del
NM_000314.8:c.490_492del MANE Select NP_000305.3:p.Lys164del