Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72121784_72121785del , CM000679.2:g.72121784_72121785del | GRCh38 |
| NC_000017.10:g.70117925_70117926del , CM000679.1:g.70117925_70117926del | GRCh37 |
| NC_000017.9:g.67629520_67629521del | NCBI36 |
| NG_012490.1:g.5765_5766del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.393_394del MANE Select | ENSP00000245479.2:p.His131GlnfsTer? | |
| ENST00000245479.2:c.393_394del | ENSP00000245479.2:p.His131GlnfsTer? | |
| NM_000346.3:c.393_394del | NP_000337.1:p.His131GlnfsTer? | |
| NM_000346.4:c.393_394del MANE Select | NP_000337.1:p.His131GlnfsTer? |