Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56595046_56595057dup , CM000679.2:g.56595046_56595057dup | GRCh38 |
| NC_000017.10:g.54672407_54672418dup , CM000679.1:g.54672407_54672418dup | GRCh37 |
| NC_000017.9:g.52027406_52027417dup | NCBI36 |
| NG_011958.1:g.6348_6359dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.*124_*135dup MANE Select | ENSP00000328181.4:n.*124_*135dup | |
| ENST00000332822.4:c.*124_*135dup | ENSP00000328181.4:n.*124_*135dup | |
| NM_005450.4:c.*124_*135dup | NP_005441.1:n.*124_*135dup | |
| NM_005450.6:c.*124_*135dup MANE Select | NP_005441.1:n.*124_*135dup |