Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229430942_229430945dup , CM000663.2:g.229430942_229430945dup | GRCh38 |
| NC_000001.10:g.229566689_229566692dup , CM000663.1:g.229566689_229566692dup | GRCh37 |
| NC_000001.9:g.227633312_227633315dup | NCBI36 |
| NG_006672.1:g.8152_8155dup , LRG_429:g.8152_8155dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684723.1:c.*554_*557dup | ENSP00000508084.1:n.*554_*557dup |