Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270320_31270322del , CM000668.2:g.31270320_31270322del | GRCh38 |
| NC_000006.11:g.31238097_31238099del , CM000668.1:g.31238097_31238099del | GRCh37 |
| NC_000006.10:g.31346076_31346078del | NCBI36 |
| NG_029422.2:g.6810_6812del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.783_785del MANE Select | ENSP00000365402.5:p.Asp262del | |
| ENST00000376228.9:c.783_785del | ENSP00000365402.5:p.Asp262del | |
| ENST00000376237.8:c.*370_*372del | ENSP00000365412.4:n.*370_*372del | |
| ENST00000383329.7:c.783_785del | ENSP00000372819.3:p.Asp262del | |
| ENST00000415537.1:c.674_676del | ||
| ENST00000470363.5:n.101_103del | ||
| ENST00000487245.5:n.1142_1144del | ||
| ENST00000495835.1:n.972_974del | ||
| NM_002117.5:c.783_785del | NP_002108.4:p.Asp262del | |
| NM_002117.6:c.783_785del MANE Select | NP_002108.4:p.Asp262del |