Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173009_173013del , CM000678.2:g.173009_173013del | GRCh38 |
| NC_000016.9:g.223008_223012del , CM000678.1:g.223008_223012del | GRCh37 |
| NC_000016.8:g.163008_163012del | NCBI36 |
| NG_000006.1:g.33872_33876del | |
| NG_059186.1:g.1359_1363del | |
| NG_059271.1:g.5163_5167del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.4:c.95+2_95+6del | |
| NM_000517.6:c.95+2_95+6del | |
| ENST00000251595.10:c.95+2_95+6del | |
| ENST00000251595.11:c.95+2_95+6del | |
| ENST00000397806.1:c.-2+51_-2+55del | ENSP00000380908.1:n.-2+51_-2+55del |
| ENST00000482565.1:n.116_120del | |
| ENST00000484216.1:n.64+2_64+6del |