Canonical Allele Identifier: CA2579926912
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952148_87952150del , CM000672.2:g.87952148_87952150del GRCh38
NC_000010.10:g.89711905_89711907del , CM000672.1:g.89711905_89711907del GRCh37
NC_000010.9:g.89701885_89701887del NCBI36
NG_007466.2:g.93710_93712del , LRG_311:g.93710_93712del

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.523_525del ENSP00000514759.2:p.Val175del
ENST00000710265.1:c.523_525del ENSP00000518161.1:p.Val175del
ENST00000472832.3:c.523_525del ENSP00000483066.2:p.Val175del
ENST00000688158.2:n.1258_1260del
ENST00000688922.2:c.*353_*355del ENSP00000508742.2:n.*353_*355del
ENST00000700021.1:c.478_480del ENSP00000514757.1:p.Val160del
ENST00000700022.1:c.493-5705_493-5703del ENSP00000514758.1:n.493-5705_493-5703del
ENST00000700023.1:n.1681_1683del
ENST00000700024.1:n.1915_1917del
ENST00000700025.1:n.1292_1294del
ENST00000700029.1:c.357_359del
ENST00000706954.1:c.523_525del ENSP00000516674.1:p.Val175del
ENST00000706955.1:c.*558_*560del ENSP00000516675.1:n.*558_*560del
ENST00000686459.1:c.*109_*111del ENSP00000508909.1:n.*109_*111del
ENST00000688158.1:c.*634_*636del ENSP00000509254.1:n.*634_*636del
ENST00000688308.1:c.523_525del ENSP00000508752.1:p.Val175del
ENST00000688922.1:c.444_446del
ENST00000693560.1:c.1042_1044del ENSP00000509861.1:p.Val348del
ENST00000371953.8:c.523_525del MANE Select ENSP00000361021.3:p.Val175del
ENST00000371953.7:c.523_525del ENSP00000361021.3:p.Val175del
NM_000314.5:c.523_525del NP_000305.3:p.Val175del
NM_000314.6:c.523_525del NP_000305.3:p.Val175del
NM_001304717.2:c.1042_1044del NP_001291646.2:p.Val348del
NM_001304718.1:c.-69_-67del NP_001291647.1:n.-69_-67del
XM_006717926.2:c.478_480del XP_006717989.1:p.Val160del
XM_011539981.1:c.523_525del XP_011538283.1:p.Val175del
XM_011539982.1:c.427_429del XP_011538284.1:p.Val143del
XR_945789.1:n.1394_1396del
XR_945790.1:n.1511_1513del
XR_945791.1:n.1205-5705_1205-5703del
NM_000314.7:c.523_525del NP_000305.3:p.Val175del
NM_001304717.5:c.1042_1044del NP_001291646.4:p.Val348del
NM_001304718.2:c.-69_-67del NP_001291647.1:n.-69_-67del
NM_000314.8:c.523_525del MANE Select NP_000305.3:p.Val175del