Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20589099dup , CM000663.2:g.20589099dup | GRCh38 |
| NC_000001.10:g.20915592dup , CM000663.1:g.20915592dup | GRCh37 |
| NC_000001.9:g.20788179dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001785.3:c.-31dup MANE Select | NP_001776.1:n.-31dup |
| ENST00000375071.4:c.-31dup MANE Select | ENSP00000364212.3:n.-31dup |
| NM_001785.2:c.-31dup | NP_001776.1:n.-31dup |
| ENST00000375071.3:c.-31dup | ENSP00000364212.3:n.-31dup |
| ENST00000461985.1:n.14dup |