| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8722725del , CM000686.2:g.8722725del | GRCh38 |
| NC_000024.9:g.8590766del , CM000686.1:g.8590766del | GRCh37 |
| NC_000024.8:g.8650766del | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000623558.1:c.196+398del | ENSP00000485446.1:n.196+398del |
| ENST00000624237.1:c.63+11773del | ENSP00000485137.1:n.63+11773del |
| ENST00000624593.1:c.-57+25991del | ENSP00000485106.1:n.-57+25991del |
| XR_938653.1:n.40-99del | |
| XR_938654.1:n.189-99del | |
| XR_938654.2:n.189-99del |