Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215867171del , CM000663.2:g.215867171del | GRCh38 |
| NC_000001.10:g.216040513del , CM000663.1:g.216040513del | GRCh37 |
| NC_000001.9:g.214107136del | NCBI36 |
| NG_009497.1:g.561227del | |
| NG_009497.2:g.561279del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.8682del | ||
| ENST00000674083.1:c.8682del | ||
| ENST00000307340.7:c.8682del | ||
| NM_206933.2:c.8682del | ||
| NM_206933.3:c.8682del | ||
| NM_206933.4:c.8682del |