Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143471576dup , CM000668.2:g.143471576dup | GRCh38 |
| NC_000006.11:g.143792713dup , CM000668.1:g.143792713dup | GRCh37 |
| NC_000006.10:g.143834406dup | NCBI36 |
| NG_008459.1:g.25796dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.543dup MANE Select | ENSP00000356563.4:p.Val182CysfsTer3 | |
| ENST00000367591.4:c.543dup | ENSP00000356563.4:p.Val182CysfsTer3 | |
| ENST00000367592.5:c.411dup | ENSP00000356564.1:p.Val138CysfsTer3 | |
| NM_003630.2:c.543dup | NP_003621.1:p.Val182CysfsTer3 | |
| NM_003630.3:c.543dup MANE Select | NP_003621.1:p.Val182CysfsTer3 |