Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173006_173007del , CM000678.2:g.173006_173007del | GRCh38 |
| NC_000016.9:g.223005_223006del , CM000678.1:g.223005_223006del | GRCh37 |
| NC_000016.8:g.163005_163006del | NCBI36 |
| NG_000006.1:g.33869_33870del | |
| NG_059186.1:g.1356_1357del | |
| NG_059271.1:g.5160_5161del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.94_95del MANE Select | ENSP00000251595.6:p.Arg32AspfsTer25 | |
| ENST00000251595.10:c.94_95del | ENSP00000251595.6:p.Arg32AspfsTer25 | |
| ENST00000397806.1:c.-2+48_-2+49del | ENSP00000380908.1:n.-2+48_-2+49del | |
| ENST00000482565.1:n.113_114del | ||
| ENST00000484216.1:n.63_64del | ||
| NM_000517.4:c.94_95del | NP_000508.1:p.Arg32AspfsTer25 | |
| NM_000517.6:c.94_95del MANE Select | NP_000508.1:p.Arg32AspfsTer25 |