Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48468099del , CM000677.2:g.48468099del | GRCh38 |
| NC_000015.9:g.48760296del , CM000677.1:g.48760296del | GRCh37 |
| NC_000015.8:g.46547588del | NCBI36 |
| NG_008805.2:g.182692del , LRG_778:g.182692del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4588del | ENSP00000453958.2:p.Arg1530AlafsTer? | |
| ENST00000674301.2:c.4588del | ENSP00000501333.2:p.Arg1530AlafsTer? | |
| ENST00000684448.1:n.3262del | ||
| ENST00000316623.10:c.4588del MANE Select | ENSP00000325527.5:p.Arg1530AlafsTer? | |
| ENST00000316623.9:c.4588del | ENSP00000325527.5:p.Arg1530AlafsTer? | |
| ENST00000537463.6:c.*351del | ENSP00000440294.2:n.*351del | |
| NM_000138.4:c.4588del , LRG_778t1:c.4588del | NP_000129.3:p.Arg1530AlafsTer? | |
| NM_000138.5:c.4588del MANE Select | NP_000129.3:p.Arg1530AlafsTer? |