Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750856dup , CM000684.2:g.27750856dup | GRCh38 |
| NC_000022.10:g.28146844dup , CM000684.1:g.28146844dup | GRCh37 |
| NC_000022.9:g.26476844dup | NCBI36 |
| NG_023258.1:g.55647dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.551dup | ||
| ENST00000302326.5:c.*63dup MANE Select | ENSP00000304956.4:n.*63dup | |
| ENST00000302326.4:c.*63dup | ENSP00000304956.4:n.*63dup | |
| ENST00000424656.1:c.379dup | ||
| ENST00000497225.1:n.382dup | ||
| NM_002430.2:c.*63dup | NP_002421.3:n.*63dup | |
| NM_002430.3:c.*63dup MANE Select | NP_002421.3:n.*63dup |