Canonical Allele Identifier: CA1139661607
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs1860552448
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958018_87958019delinsT , CM000672.2:g.87958018_87958019delinsT GRCh38
NC_000010.10:g.89717775_89717776delinsT , CM000672.1:g.89717775_89717776delinsT GRCh37
NC_000010.9:g.89707755_89707756delinsT NCBI36
NG_007466.2:g.99580_99581delinsT , LRG_311:g.99580_99581delinsT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.800_801delinsT ENSP00000514759.2:p.Lys267MetfsTer?
ENST00000710265.1:c.800_801delinsT ENSP00000518161.1:p.Lys267MetfsTer9
ENST00000472832.3:c.800_801delinsT ENSP00000483066.2:p.Lys267MetfsTer9
ENST00000688158.2:n.1535_1536delinsT
ENST00000688922.2:c.*630_*631delinsT ENSP00000508742.2:n.*630_*631delinsT
ENST00000700021.1:c.755_756delinsT ENSP00000514757.1:p.Lys252MetfsTer9
ENST00000700022.1:c.*139_*140delinsT ENSP00000514758.1:n.*139_*140delinsT
ENST00000700023.1:n.1958_1959delinsT
ENST00000700024.1:n.2192_2193delinsT
ENST00000700025.1:n.1569_1570delinsT
ENST00000700026.1:n.437_438delinsT
ENST00000700029.1:c.634_635delinsT
ENST00000706954.1:c.800_801delinsT ENSP00000516674.1:p.Lys267MetfsTer9
ENST00000706955.1:c.*835_*836delinsT ENSP00000516675.1:n.*835_*836delinsT
ENST00000686459.1:c.*386_*387delinsT ENSP00000508909.1:n.*386_*387delinsT
ENST00000688158.1:c.*911_*912delinsT ENSP00000509254.1:n.*911_*912delinsT
ENST00000688308.1:c.800_801delinsT ENSP00000508752.1:p.Lys267MetfsTer9
ENST00000688922.1:c.721_722delinsT
ENST00000693560.1:c.1319_1320delinsT ENSP00000509861.1:p.Lys440MetfsTer9
ENST00000371953.8:c.800_801delinsT MANE Select ENSP00000361021.3:p.Lys267MetfsTer9
ENST00000371953.7:c.800_801delinsT ENSP00000361021.3:p.Lys267MetfsTer9
ENST00000472832.2:c.227_228delinsT ENSP00000483066.1:p.Lys76MetfsTer9
NM_000314.5:c.800_801delinsT NP_000305.3:p.Lys267MetfsTer9
NM_000314.6:c.800_801delinsT NP_000305.3:p.Lys267MetfsTer9
NM_001304717.2:c.1319_1320delinsT NP_001291646.2:p.Lys440MetfsTer9
NM_001304718.1:c.209_210delinsT NP_001291647.1:p.Lys70MetfsTer9
XM_006717926.2:c.755_756delinsT XP_006717989.1:p.Lys252MetfsTer9
XM_011539981.1:c.800_801delinsT XP_011538283.1:p.Lys267MetfsTer9
XM_011539982.1:c.704_705delinsT XP_011538284.1:p.Lys235MetfsTer9
XR_945791.1:n.1370_1371delinsT
NM_000314.7:c.800_801delinsT NP_000305.3:p.Lys267MetfsTer9
NM_001304717.5:c.1319_1320delinsT NP_001291646.4:p.Lys440MetfsTer9
NM_001304718.2:c.209_210delinsT NP_001291647.1:p.Lys70MetfsTer9
NM_000314.8:c.800_801delinsT MANE Select NP_000305.3:p.Lys267MetfsTer9
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