Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863320G= , CM000672.2:g.87863320G= | GRCh38 |
| NC_000010.10:g.89623077G= , CM000672.1:g.89623077G= | GRCh37 |
| NC_000010.9:g.89613057G= | NCBI36 |
| NG_007466.2:g.4883G= , LRG_311:g.4883G= | |
| NG_033079.1:g.5118C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+678G= (PTEN) | ENSP00000516674.1:n.-17+678G= | |
| ENST00000688308.1:c.-17+207G= (PTEN) | ENSP00000508752.1:n.-17+207G= | |
| ENST00000445946.5:c.-833C= (KLLN) MANE Select | ENSP00000392204.2:n.-833C= | |
| ENST00000371953.7:c.-1150G= (PTEN) | ENSP00000361021.3:n.-1150G= | |
| ENST00000445946.3:c.-833C= (KLLN) | ENSP00000392204.2:n.-833C= | |
| NM_001126049.1:c.-833C= (KLLN) | NP_001119521.1:n.-833C= | |
| NM_001126049.2:c.-833C= (KLLN) MANE Select | NP_001119521.1:n.-833C= |