Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229430967_229430970dup , CM000663.2:g.229430967_229430970dup | GRCh38 |
| NC_000001.10:g.229566714_229566717dup , CM000663.1:g.229566714_229566717dup | GRCh37 |
| NC_000001.9:g.227633337_227633340dup | NCBI36 |
| NG_006672.1:g.8129_8132dup , LRG_429:g.8129_8132dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684723.1:c.*531_*534dup | ENSP00000508084.1:n.*531_*534dup |