Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207454198_207454203dup , CM000663.2:g.207454198_207454203dup | GRCh38 |
| NC_000001.10:g.207627543_207627548dup , CM000663.1:g.207627543_207627548dup | GRCh37 |
| NC_000001.9:g.205694166_205694171dup | NCBI36 |
| NG_013006.1:g.4899_4904dup , LRG_348:g.4899_4904dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699640.1:c.-385+1103_-385+1108dup | ENSP00000514493.1:n.-385+1103_-385+1108dup |