Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10897220dup , CM000668.2:g.10897220dup | GRCh38 |
| NC_000006.11:g.10897453dup , CM000668.1:g.10897453dup | GRCh37 |
| NC_000006.10:g.11005439dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283141.11:c.337-791dup MANE Select | ENSP00000283141.6:n.337-791dup | |
| ENST00000283141.10:c.337-791dup | ENSP00000283141.6:n.337-791dup | |
| ENST00000341041.8:c.337-791dup | ENSP00000340320.4:n.337-791dup | |
| ENST00000480294.1:c.*299-791dup | ENSP00000417929.1:n.*299-791dup | |
| ENST00000543878.5:c.334-791dup | ENSP00000440676.2:n.334-791dup | |
| NM_001040274.2:c.337-791dup | NP_001035364.2:n.337-791dup | |
| NM_001040274.3:c.337-791dup MANE Select | NP_001035364.2:n.337-791dup |