Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.145673_145674del , CM000682.2:g.145673_145674del | GRCh38 |
| NC_000020.10:g.126314_126315del , CM000682.1:g.126314_126315del | GRCh37 |
| NC_000020.9:g.74314_74315del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382398.4:c.317_318del MANE Select | ENSP00000371835.3:p.Pro106ArgfsTer? | |
| ENST00000382398.3:c.317_318del | ENSP00000371835.3:p.Pro106ArgfsTer? | |
| ENST00000542572.1:n.222_223del | ||
| NM_030931.3:c.317_318del | NP_112193.1:p.Pro106ArgfsTer? | |
| NM_030931.4:c.317_318del MANE Select | NP_112193.1:p.Pro106ArgfsTer? |