Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131883711dup , CM000668.2:g.131883711dup | GRCh38 |
| NC_000006.11:g.132204851dup , CM000668.1:g.132204851dup | GRCh37 |
| NC_000006.10:g.132246544dup | NCBI36 |
| NG_008206.1:g.80696dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684674.1:n.679dup | ||
| ENST00000647893.1:c.2248dup MANE Select | ENSP00000498074.1:p.Ser750LysfsTer6 | |
| ENST00000360971.6:c.2248dup | ENSP00000354238.2:p.Ser750LysfsTer6 | |
| ENST00000513998.5:c.*1085dup | ENSP00000422424.1:n.*1085dup | |
| NM_006208.2:c.2248dup | NP_006199.2:p.Ser750LysfsTer6 | |
| XM_011535896.1:c.1138dup | XP_011534198.1:p.Ser380LysfsTer6 | |
| NM_006208.3:c.2248dup MANE Select | NP_006199.2:p.Ser750LysfsTer6 |