Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583379dup , CM000679.2:g.41583379dup | GRCh38 |
| NC_000017.10:g.39739631dup , CM000679.1:g.39739631dup | GRCh37 |
| NC_000017.9:g.36993157dup | NCBI36 |
| NG_008624.1:g.8518dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1131dup MANE Select | ENSP00000167586.6:p.Gly378TrpfsTer? | |
| ENST00000167586.6:c.1131dup | ENSP00000167586.6:p.Gly378TrpfsTer? | |
| ENST00000441550.2:n.78dup | ||
| ENST00000476662.1:n.581dup | ||
| NM_000526.4:c.1131dup | NP_000517.2:p.Gly378TrpfsTer? | |
| NM_000526.5:c.1131dup MANE Select | NP_000517.3:p.Gly378TrpfsTer? |