Linked Data
gnomAD v4:
17-4631358-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4631361_4631362del , CM000679.2:g.4631361_4631362del | GRCh38 |
| NC_000017.10:g.4534656_4534657del , CM000679.1:g.4534656_4534657del | GRCh37 |
| NC_000017.9:g.4481405_4481406del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293761.8:c.*240_*241del MANE Select | ENSP00000293761.3:n.*240_*241del | |
| ENST00000293761.7:c.*240_*241del | ENSP00000293761.3:n.*240_*241del | |
| ENST00000570836.5:c.*240_*241del | ENSP00000458832.1:n.*240_*241del | |
| ENST00000574640.1:c.*240_*241del | ENSP00000460483.1:n.*240_*241del | |
| NM_001140.3:c.*240_*241del | NP_001131.3:n.*240_*241del | |
| NM_001140.4:c.*240_*241del | NP_001131.3:n.*240_*241del | |
| NM_001140.5:c.*240_*241del MANE Select | NP_001131.3:n.*240_*241del |