Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750774dup , CM000684.2:g.27750774dup | GRCh38 |
| NC_000022.10:g.28146762dup , CM000684.1:g.28146762dup | GRCh37 |
| NC_000022.9:g.26476762dup | NCBI36 |
| NG_023258.1:g.55726dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.630dup | ||
| ENST00000302326.5:c.*142dup MANE Select | ENSP00000304956.4:n.*142dup | |
| ENST00000302326.4:c.*142dup | ENSP00000304956.4:n.*142dup | |
| ENST00000424656.1:c.455+3dup | ||
| ENST00000497225.1:n.461dup | ||
| NM_002430.2:c.*142dup | NP_002421.3:n.*142dup | |
| NM_002430.3:c.*142dup MANE Select | NP_002421.3:n.*142dup |