Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228158497_228158498delinsTC , CM000663.2:g.228158497_228158498delinsTC | GRCh38 |
| NC_000001.10:g.228346198_228346199delinsTC , CM000663.1:g.228346198_228346199delinsTC | GRCh37 |
| NC_000001.9:g.226412821_226412822delinsTC | NCBI36 |
| NG_011838.1:g.13646_13647delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020435.4:c.739_740delinsTC MANE Select | NP_065168.2:p.Arg247Ser |
| ENST00000366714.3:c.739_740delinsTC MANE Select | ENSP00000355675.2:p.Arg247Ser |
| NM_020435.3:c.739_740delinsTC | NP_065168.2:p.Arg247Ser |
| ENST00000366714.2:c.739_740delinsTC | ENSP00000355675.2:p.Arg247Ser |