Linked Data
gnomAD v4:
10-87863271-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863275del , CM000672.2:g.87863275del | GRCh38 |
| NC_000010.10:g.89623032del , CM000672.1:g.89623032del | GRCh37 |
| NC_000010.9:g.89613012del | NCBI36 |
| NG_007466.2:g.4838del , LRG_311:g.4838del | |
| NG_033079.1:g.5166del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+633del (PTEN) | ENSP00000516674.1:n.-17+633del | |
| ENST00000688308.1:c.-17+162del (PTEN) | ENSP00000508752.1:n.-17+162del | |
| ENST00000445946.5:c.-785del (KLLN) MANE Select | ENSP00000392204.2:n.-785del | |
| ENST00000371953.7:c.-1195del (PTEN) | ENSP00000361021.3:n.-1195del | |
| ENST00000445946.3:c.-785del (KLLN) | ENSP00000392204.2:n.-785del | |
| NM_001126049.1:c.-785del (KLLN) | NP_001119521.1:n.-785del | |
| NM_001126049.2:c.-785del (KLLN) MANE Select | NP_001119521.1:n.-785del |