Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863191dup , CM000672.2:g.87863191dup | GRCh38 |
| NC_000010.10:g.89622948dup , CM000672.1:g.89622948dup | GRCh37 |
| NC_000010.9:g.89612928dup | NCBI36 |
| NG_007466.2:g.4754dup , LRG_311:g.4754dup | |
| NG_033079.1:g.5250dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+549dup (PTEN) | ENSP00000516674.1:n.-17+549dup | |
| ENST00000688308.1:c.-17+78dup (PTEN) | ENSP00000508752.1:n.-17+78dup | |
| ENST00000445946.5:c.-701dup (KLLN) MANE Select | ENSP00000392204.2:n.-701dup | |
| ENST00000371953.7:c.-1279dup (PTEN) | ENSP00000361021.3:n.-1279dup | |
| ENST00000445946.3:c.-701dup (KLLN) | ENSP00000392204.2:n.-701dup | |
| NM_001126049.1:c.-701dup (KLLN) | NP_001119521.1:n.-701dup | |
| NM_001126049.2:c.-701dup (KLLN) MANE Select | NP_001119521.1:n.-701dup |