Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10143181_10152298del , CM000665.2:g.10143181_10152298del | GRCh38 |
| NC_000003.11:g.10184865_10193982del , CM000665.1:g.10184865_10193982del | GRCh37 |
| NC_000003.10:g.10159865_10168982del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000551.4:c.340+994_*2333del | |
| NM_001354723.2:c.*17+160_*2529del | |
| NM_198156.3:c.340+994_*2333del | |
| ENST00000256474.3:c.340+994_*2333del | |
| ENST00000696153.1:c.340+994_*2333del |