Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197706087_197706354del , CM000664.2:g.197706087_197706354del | GRCh38 |
| NC_000002.11:g.198570811_198571078del , CM000664.1:g.198570811_198571078del | GRCh37 |
| NC_000002.10:g.198279056_198279323del | NCBI36 |
| NG_034122.1:g.5784_6051del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138395.4:c.682_949del MANE Select | NP_612404.1:p.Gly228ProfsTer9 |
| ENST00000282276.8:c.682_949del MANE Select | ENSP00000282276.6:p.Gly228ProfsTer9 |
| NM_138395.3:c.682_949del | NP_612404.1:p.Gly228ProfsTer9 |
| ENST00000282276.7:c.682_949del | ENSP00000282276.6:p.Gly228ProfsTer9 |