Canonical Allele Identifier: CA3275504395
Community Standard Title: NM_000314.8(PTEN):c.389_390delinsTT (p.Arg130Leu)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933148_87933149delinsTT , CM000672.2:g.87933148_87933149delinsTT GRCh38
NC_000010.10:g.89692905_89692906delinsTT , CM000672.1:g.89692905_89692906delinsTT GRCh37
NC_000010.9:g.89682885_89682886delinsTT NCBI36
NG_007466.2:g.74710_74711delinsTT , LRG_311:g.74710_74711delinsTT

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.389_390delinsTT MANE Select NP_000305.3:p.Arg130Leu
ENST00000371953.8:c.389_390delinsTT MANE Select ENSP00000361021.3:p.Arg130Leu
NM_000314.5:c.389_390delinsTT NP_000305.3:p.Arg130Leu
NM_000314.6:c.389_390delinsTT NP_000305.3:p.Arg130Leu
NM_000314.7:c.389_390delinsTT NP_000305.3:p.Arg130Leu
NM_001304717.2:c.908_909delinsTT NP_001291646.2:p.Arg303Leu
NM_001304717.5:c.908_909delinsTT NP_001291646.4:p.Arg303Leu
NM_001304718.1:c.-362_-361delinsTT NP_001291647.1:n.-362_-361delinsTT
NM_001304718.2:c.-362_-361delinsTT NP_001291647.1:n.-362_-361delinsTT
ENST00000371953.7:c.389_390delinsTT ENSP00000361021.3:p.Arg130Leu
ENST00000472832.3:c.389_390delinsTT ENSP00000483066.2:p.Arg130Leu
ENST00000498703.1:n.215_216delinsTT
ENST00000610634.1:c.287_288delinsTT ENSP00000477517.1:p.Arg96Leu
ENST00000686459.1:c.389_390delinsTT ENSP00000508909.1:p.Arg130Leu
ENST00000688158.1:c.*500_*501delinsTT ENSP00000509254.1:n.*500_*501delinsTT
ENST00000688158.2:n.1124_1125delinsTT
ENST00000688308.1:c.389_390delinsTT ENSP00000508752.1:p.Arg130Leu
ENST00000688922.1:c.310_311delinsTT
ENST00000688922.2:c.*219_*220delinsTT ENSP00000508742.2:n.*219_*220delinsTT
ENST00000693560.1:c.908_909delinsTT ENSP00000509861.1:p.Arg303Leu
ENST00000700021.1:c.344_345delinsTT ENSP00000514757.1:p.Arg115Leu
ENST00000700022.1:c.389_390delinsTT ENSP00000514758.1:p.Arg130Leu
ENST00000700029.1:c.223_224delinsTT
ENST00000700029.2:c.389_390delinsTT ENSP00000514759.2:p.Arg130Leu
ENST00000706954.1:c.389_390delinsTT ENSP00000516674.1:p.Arg130Leu
ENST00000706955.1:c.*424_*425delinsTT ENSP00000516675.1:n.*424_*425delinsTT
ENST00000710265.1:c.389_390delinsTT ENSP00000518161.1:p.Arg130Leu
XM_006717926.2:c.344_345delinsTT XP_006717989.1:p.Arg115Leu
XM_011539981.1:c.389_390delinsTT XP_011538283.1:p.Arg130Leu
XM_011539982.1:c.293_294delinsTT XP_011538284.1:p.Arg98Leu
XR_945789.1:n.1101_1102delinsTT
XR_945790.1:n.1101_1102delinsTT
XR_945791.1:n.1101_1102delinsTT