Canonical Allele Identifier: CA645554072
Gene: PTEN HGNC NCBI

Linked Data

COSMIC: COSM921135

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958015_87958019dup , CM000672.2:g.87958015_87958019dup GRCh38
NC_000010.10:g.89717772_89717776dup , CM000672.1:g.89717772_89717776dup GRCh37
NC_000010.9:g.89707752_89707756dup NCBI36
NG_007466.2:g.99577_99581dup , LRG_311:g.99577_99581dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.797_801dup ENSP00000514759.2:p.Gly268LysfsTer?
ENST00000710265.1:c.797_801dup ENSP00000518161.1:p.Asp268LysfsTer10
ENST00000472832.3:c.797_801dup ENSP00000483066.2:p.Asp268LysfsTer10
ENST00000688158.2:n.1532_1536dup
ENST00000688922.2:c.*627_*631dup ENSP00000508742.2:n.*627_*631dup
ENST00000700021.1:c.752_756dup ENSP00000514757.1:p.Asp253LysfsTer10
ENST00000700022.1:c.*136_*140dup ENSP00000514758.1:n.*136_*140dup
ENST00000700023.1:n.1955_1959dup
ENST00000700024.1:n.2189_2193dup
ENST00000700025.1:n.1566_1570dup
ENST00000700026.1:n.434_438dup
ENST00000700029.1:c.631_635dup
ENST00000706954.1:c.797_801dup ENSP00000516674.1:p.Asp268LysfsTer10
ENST00000706955.1:c.*832_*836dup ENSP00000516675.1:n.*832_*836dup
ENST00000686459.1:c.*383_*387dup ENSP00000508909.1:n.*383_*387dup
ENST00000688158.1:c.*908_*912dup ENSP00000509254.1:n.*908_*912dup
ENST00000688308.1:c.797_801dup ENSP00000508752.1:p.Asp268LysfsTer10
ENST00000688922.1:c.718_722dup
ENST00000693560.1:c.1316_1320dup ENSP00000509861.1:p.Asp441LysfsTer10
ENST00000371953.8:c.797_801dup MANE Select ENSP00000361021.3:p.Asp268LysfsTer10
ENST00000371953.7:c.797_801dup ENSP00000361021.3:p.Asp268LysfsTer10
ENST00000472832.2:c.224_228dup ENSP00000483066.1:p.Asp77LysfsTer10
NM_000314.5:c.797_801dup NP_000305.3:p.Asp268LysfsTer10
NM_000314.6:c.797_801dup NP_000305.3:p.Asp268LysfsTer10
NM_001304717.2:c.1316_1320dup NP_001291646.2:p.Asp441LysfsTer10
NM_001304718.1:c.206_210dup NP_001291647.1:p.Asp71LysfsTer10
XM_006717926.2:c.752_756dup XP_006717989.1:p.Asp253LysfsTer10
XM_011539981.1:c.797_801dup XP_011538283.1:p.Asp268LysfsTer10
XM_011539982.1:c.701_705dup XP_011538284.1:p.Asp236LysfsTer10
XR_945791.1:n.1367_1371dup
NM_000314.7:c.797_801dup NP_000305.3:p.Asp268LysfsTer10
NM_001304717.5:c.1316_1320dup NP_001291646.4:p.Asp441LysfsTer10
NM_001304718.2:c.206_210dup NP_001291647.1:p.Asp71LysfsTer10
NM_000314.8:c.797_801dup MANE Select NP_000305.3:p.Asp268LysfsTer10