Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767497_28767499dup , CM000676.2:g.28767497_28767499dup | GRCh38 |
| NC_000014.8:g.29236703_29236705dup , CM000676.1:g.29236703_29236705dup | GRCh37 |
| NC_000014.7:g.28306454_28306456dup | NCBI36 |
| NG_009367.1:g.5417_5419dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.218_220dup | ENSP00000516406.1:p.Gln73_Pro74insGln | |
| ENST00000313071.7:c.218_220dup MANE Select | ENSP00000339004.3:p.Gln73_Pro74insGln | |
| ENST00000313071.6:c.218_220dup | ENSP00000339004.3:p.Gln73_Pro74insGln | |
| NM_005249.4:c.218_220dup | NP_005240.3:p.Gln73_Pro74insGln | |
| NM_005249.5:c.218_220dup MANE Select | NP_005240.3:p.Gln73_Pro74insGln |