Linked Data
gnomAD v4:
17-4734369-AGGCTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4734371_4734375del , CM000679.2:g.4734371_4734375del | GRCh38 |
| NC_000017.10:g.4637666_4637670del , CM000679.1:g.4637666_4637670del | GRCh37 |
| NC_000017.9:g.4584415_4584419del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293778.12:c.*129_*133del MANE Select | ENSP00000293778.7:n.*129_*133del | |
| ENST00000574412.6:c.*232_*236del | ENSP00000459592.2:n.*232_*236del | |
| ENST00000293778.10:c.*129_*133del | ENSP00000293778.6:n.*129_*133del | |
| ENST00000574412.5:c.*232_*236del | ENSP00000459592.1:n.*232_*236del | |
| ENST00000576153.5:n.685_689del | ||
| NM_022059.3:c.*129_*133del | NP_071342.2:n.*129_*133del | |
| NM_022059.4:c.*129_*133del | NP_071342.2:n.*129_*133del | |
| NM_001386809.1:c.*129_*133del MANE Select | NP_001373738.1:n.*129_*133del |