Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586543_41586590dup , CM000679.2:g.41586543_41586590dup | GRCh38 |
| NC_000017.10:g.39742795_39742842dup , CM000679.1:g.39742795_39742842dup | GRCh37 |
| NC_000017.9:g.36996321_36996368dup | NCBI36 |
| NG_008624.1:g.5316_5363dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.255_302dup MANE Select | ENSP00000167586.6:p.Gly101_Gly102insGlyGlyTyrGlyGlyGlyLeuGlyA... | |
| ENST00000167586.6:c.255_302dup | ENSP00000167586.6:p.Gly101_Gly102insGlyGlyTyrGlyGlyGlyLeuGlyA... | |
| NM_000526.4:c.255_302dup | NP_000517.2:p.Gly101_Gly102insGlyGlyTyrGlyGlyGlyLeuGlyAlaGlyL... | |
| NM_000526.5:c.255_302dup MANE Select | NP_000517.3:p.Gly101_Gly102insGlyGlyTyrGlyGlyGlyLeuGlyAlaGlyL... |