Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94949050_94949051del , CM000672.2:g.94949050_94949051del | GRCh38 |
| NC_000010.10:g.96708807_96708808del , CM000672.1:g.96708807_96708808del | GRCh37 |
| NC_000010.9:g.96698797_96698798del | NCBI36 |
| NG_008385.1:g.15393_15394del | |
| NG_008385.2:g.15893_15894del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.643-58_643-57del MANE Select | ENSP00000260682.6:n.643-58_643-57del | |
| ENST00000643112.1:c.643-58_643-57del | ENSP00000496202.1:n.643-58_643-57del | |
| ENST00000260682.6:c.643-58_643-57del | ENSP00000260682.6:n.643-58_643-57del | |
| ENST00000473496.1:n.414-58_414-57del | ||
| NM_000771.3:c.643-58_643-57del | NP_000762.2:n.643-58_643-57del | |
| NM_000771.4:c.643-58_643-57del MANE Select | NP_000762.2:n.643-58_643-57del |