Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17394216dup , CM000663.2:g.17394216dup | GRCh38 |
| NC_000001.10:g.17720712dup , CM000663.1:g.17720712dup | GRCh37 |
| NC_000001.9:g.17593299dup | NCBI36 |
| NG_032943.1:g.26971dup | |
| NG_032943.2:g.26971dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1183-84dup MANE Select | ENSP00000483125.1:n.1183-84dup | |
| NM_207421.4:c.1183-84dup MANE Select | NP_997304.3:n.1183-84dup |