Canonical Allele Identifier: CA2579926837
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957855_87957856delinsAA , CM000672.2:g.87957855_87957856delinsAA GRCh38
NC_000010.10:g.89717612_89717613delinsAA , CM000672.1:g.89717612_89717613delinsAA GRCh37
NC_000010.9:g.89707592_89707593delinsAA NCBI36
NG_007466.2:g.99417_99418delinsAA , LRG_311:g.99417_99418delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.637_638delinsAA ENSP00000514759.2:p.Pro213Asn
ENST00000710265.1:c.637_638delinsAA ENSP00000518161.1:p.Pro213Asn
ENST00000472832.3:c.637_638delinsAA ENSP00000483066.2:p.Pro213Asn
ENST00000688158.2:n.1372_1373delinsAA
ENST00000688922.2:c.*467_*468delinsAA ENSP00000508742.2:n.*467_*468delinsAA
ENST00000700021.1:c.592_593delinsAA ENSP00000514757.1:p.Pro198Asn
ENST00000700022.1:c.495_496delinsAA ENSP00000514758.1:p.Leu166Ile
ENST00000700023.1:n.1795_1796delinsAA
ENST00000700024.1:n.2029_2030delinsAA
ENST00000700025.1:n.1406_1407delinsAA
ENST00000700026.1:n.274_275delinsAA
ENST00000700029.1:c.471_472delinsAA
ENST00000706954.1:c.637_638delinsAA ENSP00000516674.1:p.Pro213Asn
ENST00000706955.1:c.*672_*673delinsAA ENSP00000516675.1:n.*672_*673delinsAA
ENST00000686459.1:c.*223_*224delinsAA ENSP00000508909.1:n.*223_*224delinsAA
ENST00000688158.1:c.*748_*749delinsAA ENSP00000509254.1:n.*748_*749delinsAA
ENST00000688308.1:c.637_638delinsAA ENSP00000508752.1:p.Pro213Asn
ENST00000688922.1:c.558_559delinsAA
ENST00000693560.1:c.1156_1157delinsAA ENSP00000509861.1:p.Pro386Asn
ENST00000371953.8:c.637_638delinsAA MANE Select ENSP00000361021.3:p.Pro213Asn
ENST00000371953.7:c.637_638delinsAA ENSP00000361021.3:p.Pro213Asn
ENST00000472832.2:c.64_65delinsAA ENSP00000483066.1:p.Pro22Asn
NM_000314.5:c.637_638delinsAA NP_000305.3:p.Pro213Asn
NM_000314.6:c.637_638delinsAA NP_000305.3:p.Pro213Asn
NM_001304717.2:c.1156_1157delinsAA NP_001291646.2:p.Pro386Asn
NM_001304718.1:c.46_47delinsAA NP_001291647.1:p.Pro16Asn
XM_006717926.2:c.592_593delinsAA XP_006717989.1:p.Pro198Asn
XM_011539981.1:c.637_638delinsAA XP_011538283.1:p.Pro213Asn
XM_011539982.1:c.541_542delinsAA XP_011538284.1:p.Pro181Asn
XR_945791.1:n.1207_1208delinsAA
NM_000314.7:c.637_638delinsAA NP_000305.3:p.Pro213Asn
NM_001304717.5:c.1156_1157delinsAA NP_001291646.4:p.Pro386Asn
NM_001304718.2:c.46_47delinsAA NP_001291647.1:p.Pro16Asn
NM_000314.8:c.637_638delinsAA MANE Select NP_000305.3:p.Pro213Asn