Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22624960del , CM000673.2:g.22624960del | GRCh38 |
| NC_000011.9:g.22646506del , CM000673.1:g.22646506del | GRCh37 |
| NC_000011.8:g.22603082del | NCBI36 |
| NG_007425.1:g.5882del , LRG_527:g.5882del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.851del MANE Select | ENSP00000330875.3:p.Arg284LeufsTer? | |
| ENST00000327470.4:c.851del | ENSP00000330875.3:p.Arg284LeufsTer? | |
| NM_022725.3:c.851del , LRG_527t1:c.851del | NP_073562.1:p.Arg284LeufsTer? | |
| NM_022725.4:c.851del MANE Select | NP_073562.1:p.Arg284LeufsTer? |