Canonical Allele Identifier: CA2579926885
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957883_87957884delinsAT , CM000672.2:g.87957883_87957884delinsAT GRCh38
NC_000010.10:g.89717640_89717641delinsAT , CM000672.1:g.89717640_89717641delinsAT GRCh37
NC_000010.9:g.89707620_89707621delinsAT NCBI36
NG_007466.2:g.99445_99446delinsAT , LRG_311:g.99445_99446delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.665_666delinsAT ENSP00000514759.2:p.Val222Asp
ENST00000710265.1:c.665_666delinsAT ENSP00000518161.1:p.Val222Asp
ENST00000472832.3:c.665_666delinsAT ENSP00000483066.2:p.Val222Asp
ENST00000688158.2:n.1400_1401delinsAT
ENST00000688922.2:c.*495_*496delinsAT ENSP00000508742.2:n.*495_*496delinsAT
ENST00000700021.1:c.620_621delinsAT ENSP00000514757.1:p.Val207Asp
ENST00000700022.1:c.*4_*5delinsAT ENSP00000514758.1:n.*4_*5delinsAT
ENST00000700023.1:n.1823_1824delinsAT
ENST00000700024.1:n.2057_2058delinsAT
ENST00000700025.1:n.1434_1435delinsAT
ENST00000700026.1:n.302_303delinsAT
ENST00000700029.1:c.499_500delinsAT
ENST00000706954.1:c.665_666delinsAT ENSP00000516674.1:p.Val222Asp
ENST00000706955.1:c.*700_*701delinsAT ENSP00000516675.1:n.*700_*701delinsAT
ENST00000686459.1:c.*251_*252delinsAT ENSP00000508909.1:n.*251_*252delinsAT
ENST00000688158.1:c.*776_*777delinsAT ENSP00000509254.1:n.*776_*777delinsAT
ENST00000688308.1:c.665_666delinsAT ENSP00000508752.1:p.Val222Asp
ENST00000688922.1:c.586_587delinsAT
ENST00000693560.1:c.1184_1185delinsAT ENSP00000509861.1:p.Val395Asp
ENST00000371953.8:c.665_666delinsAT MANE Select ENSP00000361021.3:p.Val222Asp
ENST00000371953.7:c.665_666delinsAT ENSP00000361021.3:p.Val222Asp
ENST00000472832.2:c.92_93delinsAT ENSP00000483066.1:p.Val31Asp
NM_000314.5:c.665_666delinsAT NP_000305.3:p.Val222Asp
NM_000314.6:c.665_666delinsAT NP_000305.3:p.Val222Asp
NM_001304717.2:c.1184_1185delinsAT NP_001291646.2:p.Val395Asp
NM_001304718.1:c.74_75delinsAT NP_001291647.1:p.Val25Asp
XM_006717926.2:c.620_621delinsAT XP_006717989.1:p.Val207Asp
XM_011539981.1:c.665_666delinsAT XP_011538283.1:p.Val222Asp
XM_011539982.1:c.569_570delinsAT XP_011538284.1:p.Val190Asp
XR_945791.1:n.1235_1236delinsAT
NM_000314.7:c.665_666delinsAT NP_000305.3:p.Val222Asp
NM_001304717.5:c.1184_1185delinsAT NP_001291646.4:p.Val395Asp
NM_001304718.2:c.74_75delinsAT NP_001291647.1:p.Val25Asp
NM_000314.8:c.665_666delinsAT MANE Select NP_000305.3:p.Val222Asp