Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319058dup , CM000673.2:g.6319058dup | GRCh38 |
| NC_000011.9:g.6340288dup , CM000673.1:g.6340288dup | GRCh37 |
| NC_000011.8:g.6296864dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.*106dup MANE Select | ENSP00000307292.3:n.*106dup | |
| ENST00000303927.3:c.*106dup | ENSP00000307292.3:n.*106dup | |
| ENST00000532354.1:n.914dup | ||
| NM_145040.2:c.*106dup | NP_659477.2:n.*106dup | |
| XR_930997.1:n.720+838dup | ||
| NM_145040.3:c.*106dup MANE Select | NP_659477.2:n.*106dup |