Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56595031_56595032delinsCT , CM000679.2:g.56595031_56595032delinsCT | GRCh38 |
| NC_000017.10:g.54672392_54672393delinsCT , CM000679.1:g.54672392_54672393delinsCT | GRCh37 |
| NC_000017.9:g.52027391_52027392delinsCT | NCBI36 |
| NG_011958.1:g.6333_6334delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.*109_*110delinsCT MANE Select | ENSP00000328181.4:n.*109_*110delinsCT | |
| ENST00000332822.4:c.*109_*110delinsCT | ENSP00000328181.4:n.*109_*110delinsCT | |
| NM_005450.4:c.*109_*110delinsCT | NP_005441.1:n.*109_*110delinsCT | |
| NM_005450.6:c.*109_*110delinsCT MANE Select | NP_005441.1:n.*109_*110delinsCT |