Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100239629del , CM000676.2:g.100239629del | GRCh38 |
| NC_000014.8:g.100705966del , CM000676.1:g.100705966del | GRCh37 |
| NC_000014.7:g.99775719del | NCBI36 |
| NG_046908.1:g.5865del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003403.5:c.385del MANE Select | NP_003394.1:p.Asp129IlefsTer? |
| ENST00000262238.10:c.385del MANE Select | ENSP00000262238.4:p.Asp129IlefsTer? |
| NM_003403.4:c.385del | NP_003394.1:p.Asp129IlefsTer? |
| ENST00000262238.8:c.385del | ENSP00000262238.4:p.Asp129IlefsTer? |