Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153725297_153725312del , CM000685.2:g.153725297_153725312del | GRCh38 |
| NC_000023.10:g.152990752_152990767del , CM000685.1:g.152990752_152990767del | GRCh37 |
| NC_000023.9:g.152643946_152643961del | NCBI36 |
| NG_009022.2:g.5430_5445del | |
| NG_023231.1:g.4435_4450del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.31_46del MANE Select | NP_000024.2:p.Arg11SerfsTer? |
| ENST00000218104.6:c.31_46del MANE Select | ENSP00000218104.3:p.Arg11SerfsTer? |
| NM_000033.3:c.31_46del | NP_000024.2:p.Arg11SerfsTer? |
| ENST00000218104.5:c.31_46del | ENSP00000218104.3:p.Arg11SerfsTer? |
| XR_938507.1:n.447_462del | |
| XR_938507.2:n.447_462del |