Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745529del , CM000665.2:g.8745529del | GRCh38 |
| NC_000003.11:g.8787215del , CM000665.1:g.8787215del | GRCh37 |
| NC_000003.10:g.8762215del | NCBI36 |
| NG_008797.2:g.16720del , LRG_329:g.16720del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.118del MANE Select | ENSP00000341940.2:p.Asp40IlefsTer5 | |
| ENST00000343849.2:c.118del | ENSP00000341940.2:p.Asp40IlefsTer5 | |
| ENST00000397368.2:c.118del | ENSP00000380525.2:p.Asp40IlefsTer5 | |
| ENST00000472766.1:n.155+11539del | ||
| NM_001234.4:c.118del | NP_001225.1:p.Asp40IlefsTer5 | |
| NM_033337.2:c.118del , LRG_329t1:c.118del | NP_203123.1:p.Asp40IlefsTer5 | |
| NM_001234.5:c.118del | NP_001225.1:p.Asp40IlefsTer5 | |
| NM_033337.3:c.118del MANE Select | NP_203123.1:p.Asp40IlefsTer5 |