Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19484650del , CM000686.2:g.19484650del | GRCh38 |
| NC_000024.9:g.21646536del , CM000686.1:g.21646536del | GRCh37 |
| NC_000024.8:g.20105924del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650676.1:n.112-4353del | ||
| ENST00000400605.5:n.106-4353del | ||
| ENST00000441139.5:n.123-4353del | ||
| ENST00000513194.1:n.238del | ||
| NR_002923.2:n.123-4353del | ||
| NR_033732.1:n.123-4353del |