Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37715868dup , CM000684.2:g.37715868dup | GRCh38 |
| NC_000022.10:g.38111875dup , CM000684.1:g.38111875dup | GRCh37 |
| NC_000022.9:g.36441821dup | NCBI36 |
| NG_012857.1:g.23881dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.562dup MANE Select | ENSP00000496394.1:p.Gln188ProfsTer? | |
| ENST00000344404.10:c.*45dup | ENSP00000340312.6:n.*45dup | |
| ENST00000406386.7:c.562dup | ENSP00000384312.3:p.Gln188ProfsTer? | |
| ENST00000455236.4:c.1519dup | ENSP00000477208.1:n.1519dup | |
| ENST00000492485.5:n.496dup | ||
| NM_001039141.2:c.562dup | NP_001034230.1:p.Gln188ProfsTer? | |
| NM_001039141.3:c.562dup MANE Select | NP_001034230.1:p.Gln188ProfsTer? |