Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665393_39665407dup , CM000679.2:g.39665393_39665407dup | GRCh38 |
| NC_000017.10:g.37821646_37821660dup , CM000679.1:g.37821646_37821660dup | GRCh37 |
| NC_000017.9:g.35075172_35075186dup | NCBI36 |
| NG_008892.1:g.5048_5062dup , LRG_210:g.5048_5062dup | |
| NG_042278.1:g.2413_2427dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.34_48dup MANE Select | ENSP00000312624.2:p.Glu16_Arg17insGluGluAsnCysGlu | |
| ENST00000309889.2:c.34_48dup | ENSP00000312624.2:p.Glu16_Arg17insGluGluAsnCysGlu | |
| ENST00000578283.1:c.34_48dup | ENSP00000462787.1:p.Glu16_Arg17insGluGluAsnCysGlu | |
| NM_003673.3:c.34_48dup , LRG_210t1:c.34_48dup | NP_003664.1:p.Glu16_Arg17insGluGluAsnCysGlu | |
| NM_003673.4:c.34_48dup MANE Select | NP_003664.1:p.Glu16_Arg17insGluGluAsnCysGlu |