Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454395del , CM000679.2:g.7454395del | GRCh38 |
| NC_000017.10:g.7357714del , CM000679.1:g.7357714del | GRCh37 |
| NC_000017.9:g.7298438del | NCBI36 |
| NG_008026.1:g.14309del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000747.3:c.919del MANE Select | NP_000738.2:p.Ile307LeufsTer? |
| ENST00000306071.7:c.919del MANE Select | ENSP00000304290.2:p.Ile307LeufsTer? |
| NM_000747.2:c.919del | NP_000738.2:p.Ile307LeufsTer? |
| ENST00000306071.6:c.919del | ENSP00000304290.2:p.Ile307LeufsTer? |
| ENST00000536404.6:c.703del | ENSP00000439209.2:p.Ile235LeufsTer? |
| ENST00000570557.5:c.582del | |
| ENST00000573209.1:n.1863del | |
| ENST00000576360.1:c.605-49del | ENSP00000459092.1:n.605-49del |