Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045701dup , CM000674.2:g.5045701dup | GRCh38 |
| NC_000012.11:g.5154867dup , CM000674.1:g.5154867dup | GRCh37 |
| NC_000012.10:g.5025128dup | NCBI36 |
| NG_012198.1:g.6783dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.1554dup MANE Select | ENSP00000252321.3:p.Phe519LeufsTer18 | |
| ENST00000252321.4:c.1554dup | ENSP00000252321.3:p.Phe519LeufsTer18 | |
| NM_002234.3:c.1554dup | NP_002225.2:p.Phe519LeufsTer18 | |
| NM_002234.4:c.1554dup MANE Select | NP_002225.2:p.Phe519LeufsTer18 |