Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215889053_215889057delinsCTCTC , CM000663.2:g.215889053_215889057delinsCTCTC | GRCh38 |
| NC_000001.10:g.216062395_216062399delinsCTCTC , CM000663.1:g.216062395_216062399delinsCTCTC | GRCh37 |
| NC_000001.9:g.214129018_214129022delinsCTCTC | NCBI36 |
| NG_009497.1:g.539340_539344delinsGAGAG | |
| NG_009497.2:g.539392_539396delinsGAGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.7595-3_7596delinsGAGAG | ||
| ENST00000674083.1:c.7595-3_7596delinsGAGAG | ||
| ENST00000307340.7:c.7595-3_7596delinsGAGAG | ||
| NM_206933.2:c.7595-3_7596delinsGAGAG | ||
| NM_206933.3:c.7595-3_7596delinsGAGAG | ||
| NM_206933.4:c.7595-3_7596delinsGAGAG |