Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891421_128891456del , CM000673.2:g.128891421_128891456del | GRCh38 |
| NC_000011.9:g.128761316_128761351del , CM000673.1:g.128761316_128761351del | GRCh37 |
| NC_000011.8:g.128266526_128266561del | NCBI36 |
| NG_023406.2:g.5004_5039del , LRG_333:g.5004_5039del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-311_-276del MANE Select | ENSP00000433295.1:n.-311_-276del | |
| ENST00000529694.5:c.-311_-276del | ENSP00000433295.1:n.-311_-276del | |
| NM_000890.3:c.-311_-276del , LRG_333t1:c.-311_-276del | NP_000881.3:n.-311_-276del | |
| NM_000890.4:c.-311_-276del | NP_000881.3:n.-311_-276del | |
| NM_001354169.1:c.-400_-365del | NP_001341098.1:n.-400_-365del | |
| NM_000890.5:c.-311_-276del MANE Select | NP_000881.3:n.-311_-276del | |
| NM_001354169.2:c.-400_-365del | NP_001341098.1:n.-400_-365del |