Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115701253_115701255del , CM000663.2:g.115701253_115701255del | GRCh38 |
| NC_000001.10:g.116243874_116243876del , CM000663.1:g.116243874_116243876del | GRCh37 |
| NC_000001.9:g.116045397_116045399del | NCBI36 |
| NG_008802.1:g.72559_72561del , LRG_404:g.72559_72561del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.*566_*568del | ENSP00000518226.1:n.*566_*568del | |
| ENST00000261448.6:c.1194_1196del MANE Select | ENSP00000261448.5:p.Asp398del | |
| ENST00000261448.5:c.1194_1196del | ENSP00000261448.5:p.Asp398del | |
| NM_001232.3:c.1194_1196del , LRG_404t1:c.1194_1196del | NP_001223.2:p.Asp398del | |
| NM_001232.4:c.1194_1196del MANE Select | NP_001223.2:p.Asp398del |