Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120739570dup , CM000674.2:g.120739570dup | GRCh38 |
| NC_000012.11:g.121177373dup , CM000674.1:g.121177373dup | GRCh37 |
| NC_000012.10:g.119661756dup | NCBI36 |
| NG_007991.1:g.18803dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.*122dup MANE Select | ENSP00000242592.4:n.*122dup | |
| ENST00000242592.8:c.*122dup | ENSP00000242592.4:n.*122dup | |
| ENST00000411593.2:c.*122dup | ENSP00000401045.2:n.*122dup | |
| NM_000017.3:c.*122dup | NP_000008.1:n.*122dup | |
| NM_001302554.1:c.*122dup | NP_001289483.1:n.*122dup | |
| NM_000017.4:c.*122dup MANE Select | NP_000008.1:n.*122dup | |
| NM_001302554.2:c.*122dup | NP_001289483.1:n.*122dup |