Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116778536dup , CM000673.2:g.116778536dup | GRCh38 |
| NC_000011.9:g.116649252dup , CM000673.1:g.116649252dup | GRCh37 |
| NC_000011.8:g.116154462dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227322.8:c.*389dup MANE Select | ENSP00000227322.3:n.*389dup | |
| ENST00000227322.7:c.*389dup | ENSP00000227322.3:n.*389dup | |
| ENST00000429220.5:c.1548dup | ||
| ENST00000444935.5:c.1681dup | ||
| NM_001317086.1:c.*389dup | NP_001304015.1:n.*389dup | |
| NM_003904.4:c.*389dup | NP_003895.1:n.*389dup | |
| NM_003904.5:c.*389dup MANE Select | NP_003895.1:n.*389dup | |
| NM_001317086.2:c.*389dup | NP_001304015.1:n.*389dup |