Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17394116_17394117insAAAAA , CM000663.2:g.17394116_17394117insAAAAA | GRCh38 |
| NC_000001.10:g.17720612_17720613insAAAAA , CM000663.1:g.17720612_17720613insAAAAA | GRCh37 |
| NC_000001.9:g.17593199_17593200insAAAAA | NCBI36 |
| NG_032943.1:g.26871_26872insAAAAA | |
| NG_032943.2:g.26871_26872insAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1182+34_1182+35insAAAAA MANE Select | ENSP00000483125.1:n.1182+34_1182+35insAAAAA | |
| NM_207421.4:c.1182+34_1182+35insAAAAA MANE Select | NP_997304.3:n.1182+34_1182+35insAAAAA |