Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28768534_28768553dup , CM000676.2:g.28768534_28768553dup | GRCh38 |
| NC_000014.8:g.29237740_29237759dup , CM000676.1:g.29237740_29237759dup | GRCh37 |
| NC_000014.7:g.28307491_28307510dup | NCBI36 |
| NG_009367.1:g.6454_6473dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.1255_1274dup | ENSP00000516406.1:p.Met426ProfsTer8 | |
| ENST00000313071.7:c.1255_1274dup MANE Select | ENSP00000339004.3:p.Met426ProfsTer8 | |
| ENST00000313071.6:c.1255_1274dup | ENSP00000339004.3:p.Met426ProfsTer8 | |
| NM_005249.4:c.1255_1274dup | NP_005240.3:p.Met426ProfsTer8 | |
| NM_005249.5:c.1255_1274dup MANE Select | NP_005240.3:p.Met426ProfsTer8 |