Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215647502_215648786del , CM000663.2:g.215647502_215648786del | GRCh38 |
| NC_000001.10:g.215820844_215822128del , CM000663.1:g.215820844_215822128del | GRCh37 |
| NC_000001.9:g.213887467_213888751del | NCBI36 |
| NG_009497.1:g.779611_780895del | |
| NG_009497.2:g.779663_780947del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.2:c.14344-20_14791+20del | |
| NM_206933.3:c.14344-20_14791+20del | |
| NM_206933.4:c.14344-20_14791+20del | |
| ENST00000307340.7:c.14344-20_14791+20del | |
| ENST00000307340.8:c.14344-20_14791+20del | |
| ENST00000674083.1:c.14344-20_14791+20del |