Canonical Allele Identifier: CA470669864
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957962_87957963insC , CM000672.2:g.87957962_87957963insC GRCh38
NC_000010.10:g.89717719_89717720insC , CM000672.1:g.89717719_89717720insC GRCh37
NC_000010.9:g.89707699_89707700insC NCBI36
NG_007466.2:g.99524_99525insC , LRG_311:g.99524_99525insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.744_745insC ENSP00000514759.2:p.Val249ArgfsTer4
ENST00000710265.1:c.744_745insC ENSP00000518161.1:p.Val249ArgfsTer4
ENST00000472832.3:c.744_745insC ENSP00000483066.2:p.Val249ArgfsTer4
ENST00000688158.2:n.1479_1480insC
ENST00000688922.2:c.*574_*575insC ENSP00000508742.2:n.*574_*575insC
ENST00000700021.1:c.699_700insC ENSP00000514757.1:p.Val234ArgfsTer4
ENST00000700022.1:c.*83_*84insC ENSP00000514758.1:n.*83_*84insC
ENST00000700023.1:n.1902_1903insC
ENST00000700024.1:n.2136_2137insC
ENST00000700025.1:n.1513_1514insC
ENST00000700026.1:n.381_382insC
ENST00000700029.1:c.578_579insC
ENST00000706954.1:c.744_745insC ENSP00000516674.1:p.Val249ArgfsTer4
ENST00000706955.1:c.*779_*780insC ENSP00000516675.1:n.*779_*780insC
ENST00000686459.1:c.*330_*331insC ENSP00000508909.1:n.*330_*331insC
ENST00000688158.1:c.*855_*856insC ENSP00000509254.1:n.*855_*856insC
ENST00000688308.1:c.744_745insC ENSP00000508752.1:p.Val249ArgfsTer4
ENST00000688922.1:c.665_666insC
ENST00000693560.1:c.1263_1264insC ENSP00000509861.1:p.Val422ArgfsTer4
ENST00000371953.8:c.744_745insC MANE Select ENSP00000361021.3:p.Val249ArgfsTer4
ENST00000371953.7:c.744_745insC ENSP00000361021.3:p.Val249ArgfsTer4
ENST00000472832.2:c.171_172insC ENSP00000483066.1:p.Val58ArgfsTer4
NM_000314.5:c.744_745insC NP_000305.3:p.Val249ArgfsTer4
NM_000314.6:c.744_745insC NP_000305.3:p.Val249ArgfsTer4
NM_001304717.2:c.1263_1264insC NP_001291646.2:p.Val422ArgfsTer4
NM_001304718.1:c.153_154insC NP_001291647.1:p.Val52ArgfsTer4
XM_006717926.2:c.699_700insC XP_006717989.1:p.Val234ArgfsTer4
XM_011539981.1:c.744_745insC XP_011538283.1:p.Val249ArgfsTer4
XM_011539982.1:c.648_649insC XP_011538284.1:p.Val217ArgfsTer4
XR_945791.1:n.1314_1315insC
NM_000314.7:c.744_745insC NP_000305.3:p.Val249ArgfsTer4
NM_001304717.5:c.1263_1264insC NP_001291646.4:p.Val422ArgfsTer4
NM_001304718.2:c.153_154insC NP_001291647.1:p.Val52ArgfsTer4
NM_000314.8:c.744_745insC MANE Select NP_000305.3:p.Val249ArgfsTer4