Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461840_122461843dup , CM000672.2:g.122461840_122461843dup | GRCh38 |
| NC_000010.10:g.124221356_124221359dup , CM000672.1:g.124221356_124221359dup | GRCh37 |
| NC_000010.9:g.124211346_124211349dup | NCBI36 |
| NG_011554.1:g.5316_5319dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.188_191dup MANE Select | ENSP00000357980.3:p.Cys64TrpfsTer? | |
| ENST00000648167.1:c.154+3131_154+3134dup | ENSP00000498033.1:n.154+3131_154+3134dup | |
| ENST00000368984.7:c.188_191dup | ENSP00000357980.3:p.Cys64TrpfsTer? | |
| NM_002775.4:c.188_191dup | NP_002766.1:p.Cys64TrpfsTer? | |
| NM_002775.5:c.188_191dup MANE Select | NP_002766.1:p.Cys64TrpfsTer? |