Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526695_7526712dup , CM000681.2:g.7526695_7526712dup | GRCh38 |
| NC_000019.9:g.7591581_7591598dup , CM000681.1:g.7591581_7591598dup | GRCh37 |
| NC_000019.8:g.7497581_7497598dup | NCBI36 |
| NG_015806.1:g.9086_9103dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.406-66_406-49dup MANE Select | ENSP00000264079.5:n.406-66_406-49dup | |
| ENST00000264079.10:c.406-66_406-49dup | ENSP00000264079.5:n.406-66_406-49dup | |
| ENST00000394321.9:n.486-66_486-49dup | ||
| ENST00000596008.1:n.368-66_368-49dup | ||
| ENST00000598406.1:n.227-66_227-49dup | ||
| ENST00000601003.1:c.406-66_406-49dup | ENSP00000469074.1:n.406-66_406-49dup | |
| NM_020533.2:c.406-66_406-49dup | NP_065394.1:n.406-66_406-49dup | |
| NM_020533.3:c.406-66_406-49dup MANE Select | NP_065394.1:n.406-66_406-49dup |