Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787417dup , CM000686.2:g.2787417dup | GRCh38 |
| NC_000024.9:g.2655458dup , CM000686.1:g.2655458dup | GRCh37 |
| NC_000024.8:g.2715458dup | NCBI36 |
| NG_011751.1:g.5337dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679518.1:n.106+12678dup | ||
| ENST00000679825.1:n.529dup | ||
| ENST00000680285.1:n.320-2332dup | ||
| ENST00000680845.1:n.166-63dup | ||
| ENST00000681787.1:n.106+12678dup | ||
| ENST00000681940.1:n.106+12678dup | ||
| ENST00000383070.2:c.189dup MANE Select | ENSP00000372547.1:p.Met64HisfsTer? | |
| ENST00000383070.1:c.189dup | ENSP00000372547.1:p.Met64HisfsTer? | |
| NM_003140.2:c.189dup | NP_003131.1:p.Met64HisfsTer? | |
| NM_003140.3:c.189dup MANE Select | NP_003131.1:p.Met64HisfsTer? |