Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767417_28767419dup , CM000676.2:g.28767417_28767419dup | GRCh38 |
| NC_000014.8:g.29236623_29236625dup , CM000676.1:g.29236623_29236625dup | GRCh37 |
| NC_000014.7:g.28306374_28306376dup | NCBI36 |
| NG_009367.1:g.5337_5339dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005249.5:c.138_140dup MANE Select | NP_005240.3:p.Gln46_His47insGln |
| ENST00000313071.7:c.138_140dup MANE Select | ENSP00000339004.3:p.Gln46_His47insGln |
| NM_005249.4:c.138_140dup | NP_005240.3:p.Gln46_His47insGln |
| ENST00000313071.6:c.138_140dup | ENSP00000339004.3:p.Gln46_His47insGln |
| ENST00000706482.1:c.138_140dup | ENSP00000516406.1:p.Gln46_His47insGln |