Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.69253794del , CM000679.2:g.69253794del | GRCh38 |
| NC_000017.10:g.67249935del , CM000679.1:g.67249935del | GRCh37 |
| NC_000017.9:g.64761530del | NCBI36 |
| NG_034199.1:g.78390del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392676.8:c.4320+1del | ||
| ENST00000392676.7:c.4320+1del | ||
| ENST00000586811.1:c.1218+1del | ||
| ENST00000586995.5:c.3382+1del | ||
| ENST00000588877.5:c.4320+1del | ||
| ENST00000591234.5:c.2262+1del | ||
| NM_018672.4:c.4320+1del | ||
| NM_172232.3:c.4320+1del | ||
| NM_172232.4:c.4320+1del | ||
| NM_018672.5:c.4320+1del |