Canonical Allele Identifier: CA2610046446
Gene: PTEN HGNC NCBI

Linked Data

gnomAD v4: 10-87863678-TGTGAG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863680_87863684del , CM000672.2:g.87863680_87863684del GRCh38
NC_000010.10:g.89623437_89623441del , CM000672.1:g.89623437_89623441del GRCh37
NC_000010.9:g.89613417_89613421del NCBI36
NG_007466.2:g.5243_5247del , LRG_311:g.5243_5247del
NG_033079.1:g.4755_4759del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.-790_-786del ENSP00000514759.2:n.-790_-786del
ENST00000710265.1:c.-790_-786del ENSP00000518161.1:n.-790_-786del
ENST00000706954.1:c.-16-774_-16-770del ENSP00000516674.1:n.-16-774_-16-770del
ENST00000706955.1:c.-790_-786del ENSP00000516675.1:n.-790_-786del
ENST00000688158.1:c.-790_-786del ENSP00000509254.1:n.-790_-786del
ENST00000688308.1:c.-17+567_-17+571del ENSP00000508752.1:n.-17+567_-17+571del
ENST00000693560.1:c.-270_-266del ENSP00000509861.1:n.-270_-266del
ENST00000371953.8:c.-790_-786del MANE Select ENSP00000361021.3:n.-790_-786del
ENST00000371953.7:c.-790_-786del ENSP00000361021.3:n.-790_-786del
ENST00000610634.1:c.-892_-888del ENSP00000477517.1:n.-892_-888del
NM_000314.5:c.-789_-785del NP_000305.3:n.-789_-785del
NM_000314.6:c.-789_-785del NP_000305.3:n.-789_-785del
NM_001304717.2:c.-270_-266del NP_001291646.2:n.-270_-266del
NM_001304718.1:c.-1494_-1490del NP_001291647.1:n.-1494_-1490del
NM_000314.7:c.-789_-785del NP_000305.3:n.-789_-785del
NM_001304717.5:c.-270_-266del NP_001291646.4:n.-270_-266del
NM_001304718.2:c.-1494_-1490del NP_001291647.1:n.-1494_-1490del
NM_000314.8:c.-790_-786del MANE Select NP_000305.3:n.-790_-786del
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