Linked Data
ClinVar Variation Id:
818681
ClinVar RCV Id:
RCV001010509
dbSNP Id:
rs1589593532
gnomAD v4:
10-87863224-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863227del , CM000672.2:g.87863227del | GRCh38 |
| NC_000010.10:g.89622984del , CM000672.1:g.89622984del | GRCh37 |
| NC_000010.9:g.89612964del | NCBI36 |
| NG_007466.2:g.4790del , LRG_311:g.4790del | |
| NG_033079.1:g.5213del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+585del (PTEN) | ENSP00000516674.1:n.-17+585del | |
| ENST00000688308.1:c.-17+114del (PTEN) | ENSP00000508752.1:n.-17+114del | |
| ENST00000445946.5:c.-738del (KLLN) MANE Select | ENSP00000392204.2:n.-738del | |
| ENST00000371953.7:c.-1243del (PTEN) | ENSP00000361021.3:n.-1243del | |
| ENST00000445946.3:c.-738del (KLLN) | ENSP00000392204.2:n.-738del | |
| NM_001126049.1:c.-738del (KLLN) | NP_001119521.1:n.-738del | |
| NM_001126049.2:c.-738del (KLLN) MANE Select | NP_001119521.1:n.-738del |