Canonical Allele Identifier: CA891838743
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952143_87952144delinsAT , CM000672.2:g.87952143_87952144delinsAT GRCh38
NC_000010.10:g.89711900_89711901delinsAT , CM000672.1:g.89711900_89711901delinsAT GRCh37
NC_000010.9:g.89701880_89701881delinsAT NCBI36
NG_007466.2:g.93705_93706delinsAT , LRG_311:g.93705_93706delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.518_519delinsAT ENSP00000514759.2:p.Arg173His
ENST00000710265.1:c.518_519delinsAT ENSP00000518161.1:p.Arg173His
ENST00000472832.3:c.518_519delinsAT ENSP00000483066.2:p.Arg173His
ENST00000688158.2:n.1253_1254delinsAT
ENST00000688922.2:c.*348_*349delinsAT ENSP00000508742.2:n.*348_*349delinsAT
ENST00000700021.1:c.473_474delinsAT ENSP00000514757.1:p.Arg158His
ENST00000700022.1:c.493-5710_493-5709delinsAT ENSP00000514758.1:n.493-5710_493-5709delinsAT
ENST00000700023.1:n.1676_1677delinsAT
ENST00000700024.1:n.1910_1911delinsAT
ENST00000700025.1:n.1287_1288delinsAT
ENST00000700029.1:c.352_353delinsAT
ENST00000706954.1:c.518_519delinsAT ENSP00000516674.1:p.Arg173His
ENST00000706955.1:c.*553_*554delinsAT ENSP00000516675.1:n.*553_*554delinsAT
ENST00000686459.1:c.*104_*105delinsAT ENSP00000508909.1:n.*104_*105delinsAT
ENST00000688158.1:c.*629_*630delinsAT ENSP00000509254.1:n.*629_*630delinsAT
ENST00000688308.1:c.518_519delinsAT ENSP00000508752.1:p.Arg173His
ENST00000688922.1:c.439_440delinsAT
ENST00000693560.1:c.1037_1038delinsAT ENSP00000509861.1:p.Arg346His
ENST00000371953.8:c.518_519delinsAT MANE Select ENSP00000361021.3:p.Arg173His
ENST00000371953.7:c.518_519delinsAT ENSP00000361021.3:p.Arg173His
NM_000314.5:c.518_519delinsAT NP_000305.3:p.Arg173His
NM_000314.6:c.518_519delinsAT NP_000305.3:p.Arg173His
NM_001304717.2:c.1037_1038delinsAT NP_001291646.2:p.Arg346His
NM_001304718.1:c.-74_-73delinsAT NP_001291647.1:n.-74_-73delinsAT
XM_006717926.2:c.473_474delinsAT XP_006717989.1:p.Arg158His
XM_011539981.1:c.518_519delinsAT XP_011538283.1:p.Arg173His
XM_011539982.1:c.422_423delinsAT XP_011538284.1:p.Arg141His
XR_945789.1:n.1389_1390delinsAT
XR_945790.1:n.1506_1507delinsAT
XR_945791.1:n.1205-5710_1205-5709delinsAT
NM_000314.7:c.518_519delinsAT NP_000305.3:p.Arg173His
NM_001304717.5:c.1037_1038delinsAT NP_001291646.4:p.Arg346His
NM_001304718.2:c.-74_-73delinsAT NP_001291647.1:n.-74_-73delinsAT
NM_000314.8:c.518_519delinsAT MANE Select NP_000305.3:p.Arg173His