Canonical Allele Identifier: CA891839883
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957966_87957967delinsGA , CM000672.2:g.87957966_87957967delinsGA GRCh38
NC_000010.10:g.89717723_89717724delinsGA , CM000672.1:g.89717723_89717724delinsGA GRCh37
NC_000010.9:g.89707703_89707704delinsGA NCBI36
NG_007466.2:g.99528_99529delinsGA , LRG_311:g.99528_99529delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.748_749delinsGA ENSP00000514759.2:p.Cys250Asp
ENST00000710265.1:c.748_749delinsGA ENSP00000518161.1:p.Cys250Asp
ENST00000472832.3:c.748_749delinsGA ENSP00000483066.2:p.Cys250Asp
ENST00000688158.2:n.1483_1484delinsGA
ENST00000688922.2:c.*578_*579delinsGA ENSP00000508742.2:n.*578_*579delinsGA
ENST00000700021.1:c.703_704delinsGA ENSP00000514757.1:p.Cys235Asp
ENST00000700022.1:c.*87_*88delinsGA ENSP00000514758.1:n.*87_*88delinsGA
ENST00000700023.1:n.1906_1907delinsGA
ENST00000700024.1:n.2140_2141delinsGA
ENST00000700025.1:n.1517_1518delinsGA
ENST00000700026.1:n.385_386delinsGA
ENST00000700029.1:c.582_583delinsGA
ENST00000706954.1:c.748_749delinsGA ENSP00000516674.1:p.Cys250Asp
ENST00000706955.1:c.*783_*784delinsGA ENSP00000516675.1:n.*783_*784delinsGA
ENST00000686459.1:c.*334_*335delinsGA ENSP00000508909.1:n.*334_*335delinsGA
ENST00000688158.1:c.*859_*860delinsGA ENSP00000509254.1:n.*859_*860delinsGA
ENST00000688308.1:c.748_749delinsGA ENSP00000508752.1:p.Cys250Asp
ENST00000688922.1:c.669_670delinsGA
ENST00000693560.1:c.1267_1268delinsGA ENSP00000509861.1:p.Cys423Asp
ENST00000371953.8:c.748_749delinsGA MANE Select ENSP00000361021.3:p.Cys250Asp
ENST00000371953.7:c.748_749delinsGA ENSP00000361021.3:p.Cys250Asp
ENST00000472832.2:c.175_176delinsGA ENSP00000483066.1:p.Cys59Asp
NM_000314.5:c.748_749delinsGA NP_000305.3:p.Cys250Asp
NM_000314.6:c.748_749delinsGA NP_000305.3:p.Cys250Asp
NM_001304717.2:c.1267_1268delinsGA NP_001291646.2:p.Cys423Asp
NM_001304718.1:c.157_158delinsGA NP_001291647.1:p.Cys53Asp
XM_006717926.2:c.703_704delinsGA XP_006717989.1:p.Cys235Asp
XM_011539981.1:c.748_749delinsGA XP_011538283.1:p.Cys250Asp
XM_011539982.1:c.652_653delinsGA XP_011538284.1:p.Cys218Asp
XR_945791.1:n.1318_1319delinsGA
NM_000314.7:c.748_749delinsGA NP_000305.3:p.Cys250Asp
NM_001304717.5:c.1267_1268delinsGA NP_001291646.4:p.Cys423Asp
NM_001304718.2:c.157_158delinsGA NP_001291647.1:p.Cys53Asp
NM_000314.8:c.748_749delinsGA MANE Select NP_000305.3:p.Cys250Asp