Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47322708_47322716dup , CM000672.2:g.47322708_47322716dup | GRCh38 |
| NC_000010.10:g.48416654_48416662dup , CM000672.1:g.48416654_48416662dup | GRCh37 |
| NC_000010.9:g.48036660_48036668dup | NCBI36 |
| NG_033916.1:g.5219_5227dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016204.4:c.40_48dup MANE Select | NP_057288.1:p.Leu16_Ala17insSerLeuLeu |
| ENST00000581492.3:c.40_48dup MANE Select | ENSP00000463051.1:p.Leu16_Ala17insSerLeuLeu |
| NM_016204.2:c.40_48dup | NP_057288.1:p.Leu16_Ala17insSerLeuLeu |
| NM_016204.3:c.40_48dup | NP_057288.1:p.Leu16_Ala17insSerLeuLeu |
| ENST00000581492.2:c.40_48dup | ENSP00000463051.1:p.Leu16_Ala17insSerLeuLeu |
| XM_006717761.2:c.40_48dup | XP_006717824.1:p.Leu16_Ala17insSerLeuLeu |