Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863262G= , CM000672.2:g.87863262G= | GRCh38 |
| NC_000010.10:g.89623019G= , CM000672.1:g.89623019G= | GRCh37 |
| NC_000010.9:g.89612999G= | NCBI36 |
| NG_007466.2:g.4825G= , LRG_311:g.4825G= | |
| NG_033079.1:g.5176C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+620G= (PTEN) | ENSP00000516674.1:n.-17+620G= | |
| ENST00000688308.1:c.-17+149G= (PTEN) | ENSP00000508752.1:n.-17+149G= | |
| ENST00000445946.5:c.-775C= (KLLN) MANE Select | ENSP00000392204.2:n.-775C= | |
| ENST00000371953.7:c.-1208G= (PTEN) | ENSP00000361021.3:n.-1208G= | |
| ENST00000445946.3:c.-775C= (KLLN) | ENSP00000392204.2:n.-775C= | |
| NM_001126049.1:c.-775C= (KLLN) | NP_001119521.1:n.-775C= | |
| NM_001126049.2:c.-775C= (KLLN) MANE Select | NP_001119521.1:n.-775C= |