Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215889054_215889060del , CM000663.2:g.215889054_215889060del | GRCh38 |
| NC_000001.10:g.216062396_216062402del , CM000663.1:g.216062396_216062402del | GRCh37 |
| NC_000001.9:g.214129019_214129025del | NCBI36 |
| NG_009497.1:g.539337_539343del | |
| NG_009497.2:g.539389_539395del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.7595-6_7595del | ||
| ENST00000674083.1:c.7595-6_7595del | ||
| ENST00000307340.7:c.7595-6_7595del | ||
| NM_206933.2:c.7595-6_7595del | ||
| NM_206933.3:c.7595-6_7595del | ||
| NM_206933.4:c.7595-6_7595del |