Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270430del , CM000668.2:g.31270430del | GRCh38 |
| NC_000006.11:g.31238207del , CM000668.1:g.31238207del | GRCh37 |
| NC_000006.10:g.31346186del | NCBI36 |
| NG_029422.2:g.6702del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.675del MANE Select | ENSP00000365402.5:p.Arg226GlyfsTer14 | |
| ENST00000376228.9:c.675del | ENSP00000365402.5:p.Arg226GlyfsTer14 | |
| ENST00000376237.8:c.*262del | ENSP00000365412.4:n.*262del | |
| ENST00000383329.7:c.675del | ENSP00000372819.3:p.Arg226GlyfsTer14 | |
| ENST00000415537.1:c.664+9del | ||
| ENST00000487245.5:n.1034del | ||
| ENST00000495835.1:n.864del | ||
| NM_002117.5:c.675del | NP_002108.4:p.Arg226GlyfsTer14 | |
| NM_002117.6:c.675del MANE Select | NP_002108.4:p.Arg226GlyfsTer14 |