Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272431dup , CM000676.2:g.91272431dup | GRCh38 |
| NC_000014.8:g.91738775dup , CM000676.1:g.91738775dup | GRCh37 |
| NC_000014.7:g.90808528dup | NCBI36 |
| NG_033118.1:g.150414dup | |
| NG_033118.2:g.150414dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.*194dup MANE Select | ENSP00000374507.6:n.*194dup | |
| ENST00000331194.8:c.*194dup | ENSP00000330332.8:n.*194dup | |
| ENST00000389857.10:c.*194dup | ENSP00000374507.6:n.*194dup | |
| ENST00000556726.5:c.2509dup | ||
| NM_001080414.3:c.*194dup | NP_001073883.2:n.*194dup | |
| XM_011536796.1:c.*194dup | XP_011535098.1:n.*194dup | |
| XM_011536796.2:c.*194dup | XP_011535098.1:n.*194dup | |
| XM_017021336.1:c.*194dup | XP_016876825.1:n.*194dup | |
| NM_001080414.4:c.*194dup MANE Select | NP_001073883.2:n.*194dup |