Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73249401dup , CM000672.2:g.73249401dup | GRCh38 |
| NC_000010.10:g.75009159dup , CM000672.1:g.75009159dup | GRCh37 |
| NC_000010.9:g.74679165dup | NCBI36 |
| NG_008096.1:g.8295dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372945.8:c.*1453dup (MRPS16) MANE Select | ENSP00000362036.3:n.*1453dup | |
| ENST00000372940.3:c.275-81dup (MRPS16) | ENSP00000362031.3:n.275-81dup | |
| ENST00000372945.7:c.*1453dup (MRPS16) | ENSP00000362036.3:n.*1453dup | |
| ENST00000479005.1:n.2024dup (MRPS16) | ||
| NM_016065.3:c.*1453dup (MRPS16) | NP_057149.1:n.*1453dup | |
| NR_038373.1:n.175+951dup (DNAJC9-AS1) | ||
| NM_016065.4:c.*1453dup (MRPS16) MANE Select | NP_057149.1:n.*1453dup |