Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16992908_16992909delinsAT , CM000670.2:g.16992908_16992909delinsAT | GRCh38 |
| NC_000008.10:g.16850417_16850418delinsAT , CM000670.1:g.16850417_16850418delinsAT | GRCh37 |
| NC_000008.9:g.16894788_16894789delinsAT | NCBI36 |
| NG_015978.1:g.14257_14258delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*163_*164delinsAT MANE Select | ENSP00000180166.5:n.*163_*164delinsAT | |
| ENST00000180166.5:c.*163_*164delinsAT | ENSP00000180166.5:n.*163_*164delinsAT | |
| NM_019851.2:c.*163_*164delinsAT | NP_062825.1:n.*163_*164delinsAT | |
| NM_019851.3:c.*163_*164delinsAT MANE Select | NP_062825.1:n.*163_*164delinsAT |