Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17088246del , CM000672.2:g.17088246del | GRCh38 |
| NC_000010.10:g.17130245del , CM000672.1:g.17130245del | GRCh37 |
| NC_000010.9:g.17170251del | NCBI36 |
| NG_008967.1:g.46572del , LRG_540:g.46572del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001081.4:c.1865del MANE Select | NP_001072.2:p.Thr622IlefsTer7 |
| ENST00000377833.10:c.1865del MANE Select | ENSP00000367064.4:p.Thr622IlefsTer7 |
| NM_001081.3:c.1865del , LRG_540t1:c.1865del | NP_001072.2:p.Thr622IlefsTer7 |
| ENST00000377833.8:c.1865del | ENSP00000367064.4:p.Thr622IlefsTer7 |
| XM_011519708.1:c.1865del | XP_011518010.1:p.Thr622IlefsTer7 |
| XM_011519708.2:c.1865del | XP_011518010.1:p.Thr622IlefsTer7 |