Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909355dup , CM000679.2:g.42909355dup | GRCh38 |
| NC_000017.10:g.41061372dup , CM000679.1:g.41061372dup | GRCh37 |
| NC_000017.9:g.38314898dup | NCBI36 |
| NG_011808.1:g.13558dup , LRG_147:g.13558dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.499dup MANE Select | ENSP00000253801.1:p.Cys167LeufsTer? | |
| ENST00000253801.6:c.499dup | ENSP00000253801.1:p.Cys167LeufsTer? | |
| ENST00000585489.1:c.447-1560dup | ENSP00000466202.1:n.447-1560dup | |
| ENST00000592383.5:c.422dup | ENSP00000465958.1:p.Ser142ValfsTer? | |
| NM_000151.3:c.499dup | NP_000142.2:p.Cys167LeufsTer? | |
| NM_001270397.1:c.422dup | NP_001257326.1:p.Ser142ValfsTer? | |
| NM_000151.4:c.499dup MANE Select | NP_000142.2:p.Cys167LeufsTer? | |
| NM_001270397.2:c.422dup | NP_001257326.1:p.Ser142ValfsTer? |