Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17395935dup , CM000663.2:g.17395935dup | GRCh38 |
| NC_000001.10:g.17722431dup , CM000663.1:g.17722431dup | GRCh37 |
| NC_000001.9:g.17595018dup | NCBI36 |
| NG_032943.1:g.28690dup | |
| NG_032943.2:g.28690dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1618+272dup MANE Select | ENSP00000483125.1:n.1618+272dup | |
| NM_207421.4:c.1618+272dup MANE Select | NP_997304.3:n.1618+272dup |