Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215816996_215817000del , CM000663.2:g.215816996_215817000del | GRCh38 |
| NC_000001.10:g.215990338_215990342del , CM000663.1:g.215990338_215990342del | GRCh37 |
| NC_000001.9:g.214056961_214056965del | NCBI36 |
| NG_009497.1:g.611401_611405del | |
| NG_009497.2:g.611453_611457del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9570+1_9570+5del | ||
| ENST00000674083.1:c.9570+1_9570+5del | ||
| ENST00000307340.7:c.9570+1_9570+5del | ||
| NM_206933.2:c.9570+1_9570+5del | ||
| NM_206933.3:c.9570+1_9570+5del | ||
| NM_206933.4:c.9570+1_9570+5del |