Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218982448dup , CM000664.2:g.218982448dup | GRCh38 |
| NC_000002.11:g.219847170dup , CM000664.1:g.219847170dup | GRCh37 |
| NC_000002.10:g.219555414dup | NCBI36 |
| NG_023323.1:g.8211dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017521.3:c.128-191dup MANE Select | NP_059991.1:n.128-191dup |
| ENST00000295727.2:c.128-191dup MANE Select | ENSP00000295727.1:n.128-191dup |
| NM_017521.2:c.128-191dup | NP_059991.1:n.128-191dup |
| ENST00000295727.1:c.128-191dup | ENSP00000295727.1:n.128-191dup |
| ENST00000470119.1:n.246-191dup |