Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40784079_40784080del , CM000663.2:g.40784079_40784080del | GRCh38 |
| NC_000001.10:g.41249751_41249752del , CM000663.1:g.41249751_41249752del | GRCh37 |
| NC_000001.9:g.41022338_41022339del | NCBI36 |
| NG_008139.1:g.5068_5069del | |
| NG_008139.2:g.5068_5069del | |
| NG_008139.3:g.5293_5294del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.-15_-14del MANE Select | ENSP00000262916.6:n.-15_-14del | |
| ENST00000347132.9:c.-15_-14del | ENSP00000262916.6:n.-15_-14del | |
| NM_004700.3:c.-15_-14del | NP_004691.2:n.-15_-14del | |
| NM_172163.2:c.-15_-14del | NP_751895.1:n.-15_-14del | |
| NM_004700.4:c.-15_-14del MANE Select | NP_004691.2:n.-15_-14del | |
| NM_172163.3:c.-15_-14del | NP_751895.1:n.-15_-14del |