Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582467_47582469del , CM000673.2:g.47582467_47582469del | GRCh38 |
| NC_000011.9:g.47604019_47604021del , CM000673.1:g.47604019_47604021del | GRCh37 |
| NC_000011.8:g.47560595_47560597del | NCBI36 |
| NG_011946.1:g.8458_8460del | |
| NG_011946.2:g.8458_8460del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.626_627+1del | ||
| ENST00000531351.2:n.1821_1822+1del | ||
| ENST00000677462.1:n.3100_3101+1del | ||
| ENST00000678975.1:n.2883_2884+1del | ||
| ENST00000263774.8:c.626_627+1del | ||
| ENST00000524568.1:n.729_731del | ||
| ENST00000525212.1:n.281_282+1del | ||
| ENST00000525378.5:n.564_565+1del | ||
| ENST00000527178.1:n.226_227+1del | ||
| ENST00000533507.5:n.1520_1521+1del | ||
| NM_004551.2:c.626_627+1del | ||
| NM_004551.3:c.626_627+1del |