Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56595031_56595032del , CM000679.2:g.56595031_56595032del | GRCh38 |
| NC_000017.10:g.54672392_54672393del , CM000679.1:g.54672392_54672393del | GRCh37 |
| NC_000017.9:g.52027391_52027392del | NCBI36 |
| NG_011958.1:g.6333_6334del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.*109_*110del MANE Select | ENSP00000328181.4:n.*109_*110del | |
| ENST00000332822.4:c.*109_*110del | ENSP00000328181.4:n.*109_*110del | |
| NM_005450.4:c.*109_*110del | NP_005441.1:n.*109_*110del | |
| NM_005450.6:c.*109_*110del MANE Select | NP_005441.1:n.*109_*110del |