Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429729_68429730insAC , CM000663.2:g.68429729_68429730insAC | GRCh38 |
| NC_000001.10:g.68895412_68895413insAC , CM000663.1:g.68895412_68895413insAC | GRCh37 |
| NC_000001.9:g.68668000_68668001insAC | NCBI36 |
| NG_008472.1:g.25230_25231insGT | |
| NG_008472.2:g.25230_25231insGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.*46_*47insGT MANE Select | ENSP00000262340.5:n.*46_*47insGT | |
| ENST00000262340.5:c.*46_*47insGT | ENSP00000262340.5:n.*46_*47insGT | |
| NM_000329.2:c.*46_*47insGT | NP_000320.1:n.*46_*47insGT | |
| XM_017002027.1:c.*46_*47insGT | XP_016857516.1:n.*46_*47insGT | |
| NM_000329.3:c.*46_*47insGT MANE Select | NP_000320.1:n.*46_*47insGT |