Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100883201_100883204dup , CM000676.2:g.100883201_100883204dup | GRCh38 |
| NC_000014.8:g.101349538_101349541dup , CM000676.1:g.101349538_101349541dup | GRCh37 |
| NC_000014.7:g.100419291_100419294dup | NCBI36 |
| NG_045001.1:g.6644_6647dup | |
| NG_045000.5:g.51933_51936dup | |
| NG_045000.6:g.51933_51936dup | |
| NG_045001.2:g.25519_25522dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.1585_1588dup MANE Select | ENSP00000497482.1:p.Cys530LeufsTer? | |
| ENST00000534062.1:c.1585_1588dup | ENSP00000435342.1:p.Cys530LeufsTer? | |
| NM_001134888.2:c.1585_1588dup | NP_001128360.1:p.Cys530LeufsTer? | |
| NM_001134888.3:c.1585_1588dup MANE Select | NP_001128360.1:p.Cys530LeufsTer? |