Canonical Allele Identifier: CA891840379
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957867_87957868delinsCG , CM000672.2:g.87957867_87957868delinsCG GRCh38
NC_000010.10:g.89717624_89717625delinsCG , CM000672.1:g.89717624_89717625delinsCG GRCh37
NC_000010.9:g.89707604_89707605delinsCG NCBI36
NG_007466.2:g.99429_99430delinsCG , LRG_311:g.99429_99430delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.649_650delinsCG ENSP00000514759.2:p.Val217Arg
ENST00000710265.1:c.649_650delinsCG ENSP00000518161.1:p.Val217Arg
ENST00000472832.3:c.649_650delinsCG ENSP00000483066.2:p.Val217Arg
ENST00000688158.2:n.1384_1385delinsCG
ENST00000688922.2:c.*479_*480delinsCG ENSP00000508742.2:n.*479_*480delinsCG
ENST00000700021.1:c.604_605delinsCG ENSP00000514757.1:p.Val202Arg
ENST00000700022.1:c.507_508delinsCG ENSP00000514758.1:p.Trp169_Ser170delinsCysAla
ENST00000700023.1:n.1807_1808delinsCG
ENST00000700024.1:n.2041_2042delinsCG
ENST00000700025.1:n.1418_1419delinsCG
ENST00000700026.1:n.286_287delinsCG
ENST00000700029.1:c.483_484delinsCG
ENST00000706954.1:c.649_650delinsCG ENSP00000516674.1:p.Val217Arg
ENST00000706955.1:c.*684_*685delinsCG ENSP00000516675.1:n.*684_*685delinsCG
ENST00000686459.1:c.*235_*236delinsCG ENSP00000508909.1:n.*235_*236delinsCG
ENST00000688158.1:c.*760_*761delinsCG ENSP00000509254.1:n.*760_*761delinsCG
ENST00000688308.1:c.649_650delinsCG ENSP00000508752.1:p.Val217Arg
ENST00000688922.1:c.570_571delinsCG
ENST00000693560.1:c.1168_1169delinsCG ENSP00000509861.1:p.Val390Arg
ENST00000371953.8:c.649_650delinsCG MANE Select ENSP00000361021.3:p.Val217Arg
ENST00000371953.7:c.649_650delinsCG ENSP00000361021.3:p.Val217Arg
ENST00000472832.2:c.76_77delinsCG ENSP00000483066.1:p.Val26Arg
NM_000314.5:c.649_650delinsCG NP_000305.3:p.Val217Arg
NM_000314.6:c.649_650delinsCG NP_000305.3:p.Val217Arg
NM_001304717.2:c.1168_1169delinsCG NP_001291646.2:p.Val390Arg
NM_001304718.1:c.58_59delinsCG NP_001291647.1:p.Val20Arg
XM_006717926.2:c.604_605delinsCG XP_006717989.1:p.Val202Arg
XM_011539981.1:c.649_650delinsCG XP_011538283.1:p.Val217Arg
XM_011539982.1:c.553_554delinsCG XP_011538284.1:p.Val185Arg
XR_945791.1:n.1219_1220delinsCG
NM_000314.7:c.649_650delinsCG NP_000305.3:p.Val217Arg
NM_001304717.5:c.1168_1169delinsCG NP_001291646.4:p.Val390Arg
NM_001304718.2:c.58_59delinsCG NP_001291647.1:p.Val20Arg
NM_000314.8:c.649_650delinsCG MANE Select NP_000305.3:p.Val217Arg