Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506719dup , CM000672.2:g.122506719dup | GRCh38 |
| NC_000010.10:g.124266235dup , CM000672.1:g.124266235dup | GRCh37 |
| NC_000010.9:g.124256225dup | NCBI36 |
| NG_011554.1:g.50195dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.806dup MANE Select | ENSP00000357980.3:p.Ser270LeufsTer? | |
| ENST00000648167.1:c.488dup | ENSP00000498033.1:p.Ser164LeufsTer? | |
| ENST00000368984.7:c.806dup | ENSP00000357980.3:p.Ser270LeufsTer? | |
| ENST00000420892.1:c.29dup | ENSP00000412676.1:p.Ser11LeufsTer? | |
| NM_002775.4:c.806dup | NP_002766.1:p.Ser270LeufsTer? | |
| NM_002775.5:c.806dup MANE Select | NP_002766.1:p.Ser270LeufsTer? |