Canonical Allele Identifier: CA2580615554
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1555054
ClinVar RCV Id: RCV002192688
dbSNP Id: rs2132277881
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958031_87958035del , CM000672.2:g.87958031_87958035del GRCh38
NC_000010.10:g.89717788_89717792del , CM000672.1:g.89717788_89717792del GRCh37
NC_000010.9:g.89707768_89707772del NCBI36
NG_007466.2:g.99593_99597del , LRG_311:g.99593_99597del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.801+12_801+16del ENSP00000514759.2:n.801+12_801+16del
ENST00000710265.1:c.801+12_801+16del ENSP00000518161.1:n.801+12_801+16del
ENST00000472832.3:c.801+12_801+16del ENSP00000483066.2:n.801+12_801+16del
ENST00000688158.2:n.1536+12_1536+16del
ENST00000688922.2:c.*631+12_*631+16del ENSP00000508742.2:n.*631+12_*631+16del
ENST00000700021.1:c.756+12_756+16del ENSP00000514757.1:n.756+12_756+16del
ENST00000700022.1:c.*140+12_*140+16del ENSP00000514758.1:n.*140+12_*140+16del
ENST00000700023.1:n.1959+12_1959+16del
ENST00000700024.1:n.2193+12_2193+16del
ENST00000700025.1:n.1570+12_1570+16del
ENST00000700026.1:n.438+12_438+16del
ENST00000700029.1:c.635+12_635+16del
ENST00000706954.1:c.801+12_801+16del ENSP00000516674.1:n.801+12_801+16del
ENST00000706955.1:c.*836+12_*836+16del ENSP00000516675.1:n.*836+12_*836+16del
ENST00000686459.1:c.*387+12_*387+16del ENSP00000508909.1:n.*387+12_*387+16del
ENST00000688158.1:c.*912+12_*912+16del ENSP00000509254.1:n.*912+12_*912+16del
ENST00000688308.1:c.801+12_801+16del ENSP00000508752.1:n.801+12_801+16del
ENST00000688922.1:c.722+12_722+16del
ENST00000693560.1:c.1320+12_1320+16del ENSP00000509861.1:n.1320+12_1320+16del
ENST00000371953.8:c.801+12_801+16del MANE Select ENSP00000361021.3:n.801+12_801+16del
ENST00000371953.7:c.801+12_801+16del ENSP00000361021.3:n.801+12_801+16del
ENST00000472832.2:c.228+12_228+16del ENSP00000483066.1:n.228+12_228+16del
NM_000314.5:c.801+12_801+16del NP_000305.3:n.801+12_801+16del
NM_000314.6:c.801+12_801+16del NP_000305.3:n.801+12_801+16del
NM_001304717.2:c.1320+12_1320+16del NP_001291646.2:n.1320+12_1320+16del
NM_001304718.1:c.210+12_210+16del NP_001291647.1:n.210+12_210+16del
XM_006717926.2:c.756+12_756+16del XP_006717989.1:n.756+12_756+16del
XM_011539981.1:c.801+12_801+16del XP_011538283.1:n.801+12_801+16del
XM_011539982.1:c.705+12_705+16del XP_011538284.1:n.705+12_705+16del
XR_945791.1:n.1371+12_1371+16del
NM_000314.7:c.801+12_801+16del NP_000305.3:n.801+12_801+16del
NM_001304717.5:c.1320+12_1320+16del NP_001291646.4:n.1320+12_1320+16del
NM_001304718.2:c.210+12_210+16del NP_001291647.1:n.210+12_210+16del
NM_000314.8:c.801+12_801+16del MANE Select NP_000305.3:n.801+12_801+16del
Search 100 bp 5'
Search 100 bp 3'