Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42900813del , CM000679.2:g.42900813del | GRCh38 |
| NC_000017.10:g.41052830del , CM000679.1:g.41052830del | GRCh37 |
| NC_000017.9:g.38306356del | NCBI36 |
| NG_011808.1:g.5016del , LRG_147:g.5016del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.-64del MANE Select | ENSP00000253801.1:n.-64del | |
| ENST00000253801.6:c.-64del | ENSP00000253801.1:n.-64del | |
| ENST00000585489.1:c.-64del | ENSP00000466202.1:n.-64del | |
| ENST00000588481.1:n.2del | ||
| ENST00000592383.5:c.-64del | ENSP00000465958.1:n.-64del | |
| NM_000151.3:c.-64del | NP_000142.2:n.-64del | |
| NM_001270397.1:c.-64del | NP_001257326.1:n.-64del | |
| NM_000151.4:c.-64del MANE Select | NP_000142.2:n.-64del | |
| NM_001270397.2:c.-64del | NP_001257326.1:n.-64del |