Canonical Allele Identifier: CA891839881
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957966_87957967delinsGC , CM000672.2:g.87957966_87957967delinsGC GRCh38
NC_000010.10:g.89717723_89717724delinsGC , CM000672.1:g.89717723_89717724delinsGC GRCh37
NC_000010.9:g.89707703_89707704delinsGC NCBI36
NG_007466.2:g.99528_99529delinsGC , LRG_311:g.99528_99529delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.748_749delinsGC ENSP00000514759.2:p.Cys250Ala
ENST00000710265.1:c.748_749delinsGC ENSP00000518161.1:p.Cys250Ala
ENST00000472832.3:c.748_749delinsGC ENSP00000483066.2:p.Cys250Ala
ENST00000688158.2:n.1483_1484delinsGC
ENST00000688922.2:c.*578_*579delinsGC ENSP00000508742.2:n.*578_*579delinsGC
ENST00000700021.1:c.703_704delinsGC ENSP00000514757.1:p.Cys235Ala
ENST00000700022.1:c.*87_*88delinsGC ENSP00000514758.1:n.*87_*88delinsGC
ENST00000700023.1:n.1906_1907delinsGC
ENST00000700024.1:n.2140_2141delinsGC
ENST00000700025.1:n.1517_1518delinsGC
ENST00000700026.1:n.385_386delinsGC
ENST00000700029.1:c.582_583delinsGC
ENST00000706954.1:c.748_749delinsGC ENSP00000516674.1:p.Cys250Ala
ENST00000706955.1:c.*783_*784delinsGC ENSP00000516675.1:n.*783_*784delinsGC
ENST00000686459.1:c.*334_*335delinsGC ENSP00000508909.1:n.*334_*335delinsGC
ENST00000688158.1:c.*859_*860delinsGC ENSP00000509254.1:n.*859_*860delinsGC
ENST00000688308.1:c.748_749delinsGC ENSP00000508752.1:p.Cys250Ala
ENST00000688922.1:c.669_670delinsGC
ENST00000693560.1:c.1267_1268delinsGC ENSP00000509861.1:p.Cys423Ala
ENST00000371953.8:c.748_749delinsGC MANE Select ENSP00000361021.3:p.Cys250Ala
ENST00000371953.7:c.748_749delinsGC ENSP00000361021.3:p.Cys250Ala
ENST00000472832.2:c.175_176delinsGC ENSP00000483066.1:p.Cys59Ala
NM_000314.5:c.748_749delinsGC NP_000305.3:p.Cys250Ala
NM_000314.6:c.748_749delinsGC NP_000305.3:p.Cys250Ala
NM_001304717.2:c.1267_1268delinsGC NP_001291646.2:p.Cys423Ala
NM_001304718.1:c.157_158delinsGC NP_001291647.1:p.Cys53Ala
XM_006717926.2:c.703_704delinsGC XP_006717989.1:p.Cys235Ala
XM_011539981.1:c.748_749delinsGC XP_011538283.1:p.Cys250Ala
XM_011539982.1:c.652_653delinsGC XP_011538284.1:p.Cys218Ala
XR_945791.1:n.1318_1319delinsGC
NM_000314.7:c.748_749delinsGC NP_000305.3:p.Cys250Ala
NM_001304717.5:c.1267_1268delinsGC NP_001291646.4:p.Cys423Ala
NM_001304718.2:c.157_158delinsGC NP_001291647.1:p.Cys53Ala
NM_000314.8:c.748_749delinsGC MANE Select NP_000305.3:p.Cys250Ala