Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863436_87863440del , CM000672.2:g.87863436_87863440del | GRCh38 |
| NC_000010.10:g.89623193_89623197del , CM000672.1:g.89623193_89623197del | GRCh37 |
| NC_000010.9:g.89613173_89613177del | NCBI36 |
| NG_007466.2:g.4999_5003del , LRG_311:g.4999_5003del | |
| NG_033079.1:g.5012_5016del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+794_-17+798del (PTEN) | ENSP00000516674.1:n.-17+794_-17+798del | |
| ENST00000688308.1:c.-17+323_-17+327del (PTEN) | ENSP00000508752.1:n.-17+323_-17+327del | |
| ENST00000445946.5:c.-939_-935del (KLLN) MANE Select | ENSP00000392204.2:n.-939_-935del | |
| ENST00000371953.7:c.-1034_-1030del (PTEN) | ENSP00000361021.3:n.-1034_-1030del | |
| NM_001126049.2:c.-939_-935del (KLLN) MANE Select | NP_001119521.1:n.-939_-935del |