Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750818dup , CM000684.2:g.27750818dup | GRCh38 |
| NC_000022.10:g.28146806dup , CM000684.1:g.28146806dup | GRCh37 |
| NC_000022.9:g.26476806dup | NCBI36 |
| NG_023258.1:g.55683dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.587dup | ||
| ENST00000302326.5:c.*99dup MANE Select | ENSP00000304956.4:n.*99dup | |
| ENST00000302326.4:c.*99dup | ENSP00000304956.4:n.*99dup | |
| ENST00000424656.1:c.415dup | ||
| ENST00000497225.1:n.418dup | ||
| NM_002430.2:c.*99dup | NP_002421.3:n.*99dup | |
| NM_002430.3:c.*99dup MANE Select | NP_002421.3:n.*99dup |