Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60645508_60645509dup , CM000676.2:g.60645508_60645509dup | GRCh38 |
| NC_000014.8:g.61112226_61112227dup , CM000676.1:g.61112226_61112227dup | GRCh37 |
| NC_000014.7:g.60181979_60181980dup | NCBI36 |
| NG_008231.1:g.8930_8931dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645694.3:c.*775_*776dup MANE Select | ENSP00000494686.1:n.*775_*776dup | |
| ENST00000247182.6:c.*775_*776dup | ENSP00000247182.5:n.*775_*776dup | |
| ENST00000553535.2:n.1318_1319dup | ||
| ENST00000554986.2:c.*775_*776dup | ENSP00000452700.2:n.*775_*776dup | |
| ENST00000555955.3:n.2267_2268dup | ||
| NM_005982.3:c.*775_*776dup | NP_005973.1:n.*775_*776dup | |
| XM_017021602.2:c.*1049_*1050dup | XP_016877091.1:n.*1049_*1050dup | |
| NM_005982.4:c.*775_*776dup MANE Select | NP_005973.1:n.*775_*776dup |