Canonical Allele Identifier: CA2574605692
Gene: PTEN HGNC NCBI

Linked Data

gnomAD v4: 10-87958108-ATTTG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958112_87958115del , CM000672.2:g.87958112_87958115del GRCh38
NC_000010.10:g.89717869_89717872del , CM000672.1:g.89717869_89717872del GRCh37
NC_000010.9:g.89707849_89707852del NCBI36
NG_007466.2:g.99674_99677del , LRG_311:g.99674_99677del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.801+93_801+96del ENSP00000514759.2:n.801+93_801+96del
ENST00000710265.1:c.801+93_801+96del ENSP00000518161.1:n.801+93_801+96del
ENST00000472832.3:c.801+93_801+96del ENSP00000483066.2:n.801+93_801+96del
ENST00000688158.2:n.1536+93_1536+96del
ENST00000688922.2:c.*631+93_*631+96del ENSP00000508742.2:n.*631+93_*631+96del
ENST00000700021.1:c.756+93_756+96del ENSP00000514757.1:n.756+93_756+96del
ENST00000700022.1:c.*140+93_*140+96del ENSP00000514758.1:n.*140+93_*140+96del
ENST00000700023.1:n.1959+93_1959+96del
ENST00000700024.1:n.2193+93_2193+96del
ENST00000700025.1:n.1570+93_1570+96del
ENST00000700026.1:n.438+93_438+96del
ENST00000700029.1:c.635+93_635+96del
ENST00000706954.1:c.801+93_801+96del ENSP00000516674.1:n.801+93_801+96del
ENST00000706955.1:c.*836+93_*836+96del ENSP00000516675.1:n.*836+93_*836+96del
ENST00000686459.1:c.*387+93_*387+96del ENSP00000508909.1:n.*387+93_*387+96del
ENST00000688158.1:c.*912+93_*912+96del ENSP00000509254.1:n.*912+93_*912+96del
ENST00000688308.1:c.801+93_801+96del ENSP00000508752.1:n.801+93_801+96del
ENST00000688922.1:c.722+93_722+96del
ENST00000693560.1:c.1320+93_1320+96del ENSP00000509861.1:n.1320+93_1320+96del
ENST00000371953.8:c.801+93_801+96del MANE Select ENSP00000361021.3:n.801+93_801+96del
ENST00000371953.7:c.801+93_801+96del ENSP00000361021.3:n.801+93_801+96del
ENST00000472832.2:c.228+93_228+96del ENSP00000483066.1:n.228+93_228+96del
NM_000314.5:c.801+93_801+96del NP_000305.3:n.801+93_801+96del
NM_000314.6:c.801+93_801+96del NP_000305.3:n.801+93_801+96del
NM_001304717.2:c.1320+93_1320+96del NP_001291646.2:n.1320+93_1320+96del
NM_001304718.1:c.210+93_210+96del NP_001291647.1:n.210+93_210+96del
XM_006717926.2:c.756+93_756+96del XP_006717989.1:n.756+93_756+96del
XM_011539981.1:c.801+93_801+96del XP_011538283.1:n.801+93_801+96del
XM_011539982.1:c.705+93_705+96del XP_011538284.1:n.705+93_705+96del
XR_945791.1:n.1371+93_1371+96del
NM_000314.7:c.801+93_801+96del NP_000305.3:n.801+93_801+96del
NM_001304717.5:c.1320+93_1320+96del NP_001291646.4:n.1320+93_1320+96del
NM_001304718.2:c.210+93_210+96del NP_001291647.1:n.210+93_210+96del
NM_000314.8:c.801+93_801+96del MANE Select NP_000305.3:n.801+93_801+96del
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