Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27751042dup , CM000684.2:g.27751042dup | GRCh38 |
| NC_000022.10:g.28147030dup , CM000684.1:g.28147030dup | GRCh37 |
| NC_000022.9:g.26477030dup | NCBI36 |
| NG_023258.1:g.55457dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.361dup | ||
| ENST00000302326.5:c.3836dup MANE Select | ENSP00000304956.4:p.Cys1280ValfsTer12 | |
| ENST00000302326.4:c.3836dup | ENSP00000304956.4:p.Cys1280ValfsTer12 | |
| ENST00000424656.1:c.189dup | ||
| ENST00000497225.1:n.192dup | ||
| NM_002430.2:c.3836dup | NP_002421.3:p.Cys1280ValfsTer12 | |
| NM_002430.3:c.3836dup MANE Select | NP_002421.3:p.Cys1280ValfsTer12 |