Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863186dup , CM000672.2:g.87863186dup | GRCh38 |
| NC_000010.10:g.89622943dup , CM000672.1:g.89622943dup | GRCh37 |
| NC_000010.9:g.89612923dup | NCBI36 |
| NG_007466.2:g.4749dup , LRG_311:g.4749dup | |
| NG_033079.1:g.5256dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+544dup (PTEN) | ENSP00000516674.1:n.-17+544dup | |
| ENST00000688308.1:c.-17+73dup (PTEN) | ENSP00000508752.1:n.-17+73dup | |
| ENST00000445946.5:c.-695dup (KLLN) MANE Select | ENSP00000392204.2:n.-695dup | |
| ENST00000371953.7:c.-1284dup (PTEN) | ENSP00000361021.3:n.-1284dup | |
| ENST00000445946.3:c.-695dup (KLLN) | ENSP00000392204.2:n.-695dup | |
| NM_001126049.1:c.-695dup (KLLN) | NP_001119521.1:n.-695dup | |
| NM_001126049.2:c.-695dup (KLLN) MANE Select | NP_001119521.1:n.-695dup |