gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911150del , CM000679.2:g.42911150del | GRCh38 |
| NC_000017.10:g.41063167del , CM000679.1:g.41063167del | GRCh37 |
| NC_000017.9:g.38316693del | NCBI36 |
| NG_011808.1:g.15353del , LRG_147:g.15353del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.798del MANE Select | ENSP00000253801.1:p.Thr267ArgfsTer? | |
| ENST00000253801.6:c.798del | ENSP00000253801.1:p.Thr267ArgfsTer? | |
| ENST00000585489.1:c.*190del | ENSP00000466202.1:n.*190del | |
| ENST00000592383.5:c.*190del | ENSP00000465958.1:n.*190del | |
| NM_000151.3:c.798del | NP_000142.2:p.Thr267ArgfsTer? | |
| NM_001270397.1:c.*190del | NP_001257326.1:n.*190del | |
| NM_000151.4:c.798del MANE Select | NP_000142.2:p.Thr267ArgfsTer? | |
| NM_001270397.2:c.*190del | NP_001257326.1:n.*190del |