Canonical Allele Identifier: CA470669853
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957961_87957962insA , CM000672.2:g.87957961_87957962insA GRCh38
NC_000010.10:g.89717718_89717719insA , CM000672.1:g.89717718_89717719insA GRCh37
NC_000010.9:g.89707698_89707699insA NCBI36
NG_007466.2:g.99523_99524insA , LRG_311:g.99523_99524insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.743_744insA ENSP00000514759.2:p.Val249CysfsTer4
ENST00000710265.1:c.743_744insA ENSP00000518161.1:p.Val249CysfsTer4
ENST00000472832.3:c.743_744insA ENSP00000483066.2:p.Val249CysfsTer4
ENST00000688158.2:n.1478_1479insA
ENST00000688922.2:c.*573_*574insA ENSP00000508742.2:n.*573_*574insA
ENST00000700021.1:c.698_699insA ENSP00000514757.1:p.Val234CysfsTer4
ENST00000700022.1:c.*82_*83insA ENSP00000514758.1:n.*82_*83insA
ENST00000700023.1:n.1901_1902insA
ENST00000700024.1:n.2135_2136insA
ENST00000700025.1:n.1512_1513insA
ENST00000700026.1:n.380_381insA
ENST00000700029.1:c.577_578insA
ENST00000706954.1:c.743_744insA ENSP00000516674.1:p.Val249CysfsTer4
ENST00000706955.1:c.*778_*779insA ENSP00000516675.1:n.*778_*779insA
ENST00000686459.1:c.*329_*330insA ENSP00000508909.1:n.*329_*330insA
ENST00000688158.1:c.*854_*855insA ENSP00000509254.1:n.*854_*855insA
ENST00000688308.1:c.743_744insA ENSP00000508752.1:p.Val249CysfsTer4
ENST00000688922.1:c.664_665insA
ENST00000693560.1:c.1262_1263insA ENSP00000509861.1:p.Val422CysfsTer4
ENST00000371953.8:c.743_744insA MANE Select ENSP00000361021.3:p.Val249CysfsTer4
ENST00000371953.7:c.743_744insA ENSP00000361021.3:p.Val249CysfsTer4
ENST00000472832.2:c.170_171insA ENSP00000483066.1:p.Val58CysfsTer4
NM_000314.5:c.743_744insA NP_000305.3:p.Val249CysfsTer4
NM_000314.6:c.743_744insA NP_000305.3:p.Val249CysfsTer4
NM_001304717.2:c.1262_1263insA NP_001291646.2:p.Val422CysfsTer4
NM_001304718.1:c.152_153insA NP_001291647.1:p.Val52CysfsTer4
XM_006717926.2:c.698_699insA XP_006717989.1:p.Val234CysfsTer4
XM_011539981.1:c.743_744insA XP_011538283.1:p.Val249CysfsTer4
XM_011539982.1:c.647_648insA XP_011538284.1:p.Val217CysfsTer4
XR_945791.1:n.1313_1314insA
NM_000314.7:c.743_744insA NP_000305.3:p.Val249CysfsTer4
NM_001304717.5:c.1262_1263insA NP_001291646.4:p.Val422CysfsTer4
NM_001304718.2:c.152_153insA NP_001291647.1:p.Val52CysfsTer4
NM_000314.8:c.743_744insA MANE Select NP_000305.3:p.Val249CysfsTer4