Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185144768_185144789del , CM000666.2:g.185144768_185144789del | GRCh38 |
| NC_000004.11:g.186065922_186065943del , CM000666.1:g.186065922_186065943del | GRCh37 |
| NC_000004.10:g.186302916_186302937del | NCBI36 |
| NG_013001.1:g.6506_6527del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281456.11:c.116_137del MANE Select | ENSP00000281456.5:p.Gln39LeufsTer14 | |
| ENST00000281456.10:c.116_137del | ENSP00000281456.5:p.Gln39LeufsTer14 | |
| ENST00000491736.1:c.116_137del | ENSP00000476711.1:p.Gln39LeufsTer14 | |
| NM_001151.3:c.116_137del | NP_001142.2:p.Gln39LeufsTer14 | |
| NM_001151.4:c.116_137del MANE Select | NP_001142.2:p.Gln39LeufsTer14 |