Canonical Allele Identifier: CA3275507040
Community Standard Title: NM_000314.8(PTEN):c.700_702delinsTTA (p.Arg234Leu)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957918_87957920delinsTTA , CM000672.2:g.87957918_87957920delinsTTA GRCh38
NC_000010.10:g.89717675_89717677delinsTTA , CM000672.1:g.89717675_89717677delinsTTA GRCh37
NC_000010.9:g.89707655_89707657delinsTTA NCBI36
NG_007466.2:g.99480_99482delinsTTA , LRG_311:g.99480_99482delinsTTA

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.700_702delinsTTA MANE Select NP_000305.3:p.Arg234Leu
ENST00000371953.8:c.700_702delinsTTA MANE Select ENSP00000361021.3:p.Arg234Leu
NM_000314.5:c.700_702delinsTTA NP_000305.3:p.Arg234Leu
NM_000314.6:c.700_702delinsTTA NP_000305.3:p.Arg234Leu
NM_000314.7:c.700_702delinsTTA NP_000305.3:p.Arg234Leu
NM_001304717.2:c.1219_1221delinsTTA NP_001291646.2:p.Arg407Leu
NM_001304717.5:c.1219_1221delinsTTA NP_001291646.4:p.Arg407Leu
NM_001304718.1:c.109_111delinsTTA NP_001291647.1:p.Arg37Leu
NM_001304718.2:c.109_111delinsTTA NP_001291647.1:p.Arg37Leu
ENST00000371953.7:c.700_702delinsTTA ENSP00000361021.3:p.Arg234Leu
ENST00000472832.2:c.127_129delinsTTA ENSP00000483066.1:p.Arg43Leu
ENST00000472832.3:c.700_702delinsTTA ENSP00000483066.2:p.Arg234Leu
ENST00000686459.1:c.*286_*288delinsTTA ENSP00000508909.1:n.*286_*288delinsTTA
ENST00000688158.1:c.*811_*813delinsTTA ENSP00000509254.1:n.*811_*813delinsTTA
ENST00000688158.2:n.1435_1437delinsTTA
ENST00000688308.1:c.700_702delinsTTA ENSP00000508752.1:p.Arg234Leu
ENST00000688922.1:c.621_623delinsTTA
ENST00000688922.2:c.*530_*532delinsTTA ENSP00000508742.2:n.*530_*532delinsTTA
ENST00000693560.1:c.1219_1221delinsTTA ENSP00000509861.1:p.Arg407Leu
ENST00000700021.1:c.655_657delinsTTA ENSP00000514757.1:p.Arg219Leu
ENST00000700022.1:c.*39_*41delinsTTA ENSP00000514758.1:n.*39_*41delinsTTA
ENST00000700023.1:n.1858_1860delinsTTA
ENST00000700024.1:n.2092_2094delinsTTA
ENST00000700025.1:n.1469_1471delinsTTA
ENST00000700026.1:n.337_339delinsTTA
ENST00000700029.1:c.534_536delinsTTA
ENST00000700029.2:c.700_702delinsTTA ENSP00000514759.2:p.Arg234Leu
ENST00000706954.1:c.700_702delinsTTA ENSP00000516674.1:p.Arg234Leu
ENST00000706955.1:c.*735_*737delinsTTA ENSP00000516675.1:n.*735_*737delinsTTA
ENST00000710265.1:c.700_702delinsTTA ENSP00000518161.1:p.Arg234Leu
XM_006717926.2:c.655_657delinsTTA XP_006717989.1:p.Arg219Leu
XM_011539981.1:c.700_702delinsTTA XP_011538283.1:p.Arg234Leu
XM_011539982.1:c.604_606delinsTTA XP_011538284.1:p.Arg202Leu
XR_945791.1:n.1270_1272delinsTTA