Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101348881_101348896del , CM000685.2:g.101348881_101348896del | GRCh38 |
| NC_000023.10:g.100603869_100603884del , CM000685.1:g.100603869_100603884del | GRCh37 |
| NC_000023.9:g.100490525_100490540del | NCBI36 |
| NG_009616.1:g.42338_42353del , LRG_128:g.42338_42353del | |
| NG_011734.1:g.5083_5098del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.3:c.-223_-208del | ENSP00000361993.3:n.-223_-208del | |
| NM_004085.3:c.-223_-208del | NP_004076.1:n.-223_-208del |