Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48527255del , CM000685.2:g.48527255del | GRCh38 |
| NC_000023.10:g.48385643del , CM000685.1:g.48385643del | GRCh37 |
| NC_000023.9:g.48270587del | NCBI36 |
| NG_007452.1:g.10480del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.439del MANE Select | ENSP00000417052.1:p.Arg147AlafsTer21 | |
| ENST00000651615.1:c.439del | ENSP00000498524.1:p.Arg147AlafsTer25 | |
| ENST00000276096.10:n.397del | ||
| ENST00000446158.5:c.439del | ENSP00000390031.1:p.Arg147AlafsTer? | |
| ENST00000466461.1:n.278del | ||
| ENST00000495186.5:c.439del | ENSP00000417052.1:p.Arg147AlafsTer21 | |
| ENST00000498425.1:n.560del | ||
| NM_006579.2:c.439del | NP_006570.1:p.Arg147AlafsTer21 | |
| NM_006579.3:c.439del MANE Select | NP_006570.1:p.Arg147AlafsTer21 |