Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746078_41746112del , CM000666.2:g.41746078_41746112del | GRCh38 |
| NC_000004.11:g.41748095_41748129del , CM000666.1:g.41748095_41748129del | GRCh37 |
| NC_000004.10:g.41442852_41442886del | NCBI36 |
| NG_008243.1:g.7867_7901del , LRG_513:g.7867_7901del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.648_682del MANE Select | ENSP00000226382.2:p.Gly217AlafsTer? | |
| ENST00000226382.3:c.648_682del | ENSP00000226382.2:p.Gly217AlafsTer? | |
| ENST00000510424.2:n.469_503del | ||
| NM_003924.3:c.648_682del , LRG_513t1:c.648_682del | NP_003915.2:p.Gly217AlafsTer? | |
| NM_003924.4:c.648_682del MANE Select | NP_003915.2:p.Gly217AlafsTer? |