Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10641236_10641237dup , CM000682.2:g.10641236_10641237dup | GRCh38 |
| NC_000020.10:g.10621884_10621885dup , CM000682.1:g.10621884_10621885dup | GRCh37 |
| NC_000020.9:g.10569884_10569885dup | NCBI36 |
| NG_007496.1:g.37810_37811dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2924_2925dup MANE Select | ENSP00000254958.4:p.Thr976LeufsTer9 | |
| ENST00000254958.9:c.2924_2925dup | ENSP00000254958.4:p.Thr976LeufsTer9 | |
| ENST00000423891.6:n.2790_2791dup | ||
| ENST00000617357.1:n.40_41dup | ||
| NM_000214.2:c.2924_2925dup | NP_000205.1:p.Thr976LeufsTer9 | |
| NM_000214.3:c.2924_2925dup MANE Select | NP_000205.1:p.Thr976LeufsTer9 |