Linked Data
gnomAD v4:
6-31271682-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271685del , CM000668.2:g.31271685del | GRCh38 |
| NC_000006.11:g.31239462del , CM000668.1:g.31239462del | GRCh37 |
| NC_000006.10:g.31347441del | NCBI36 |
| NG_029422.2:g.5449del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.259del MANE Select | ENSP00000365402.5:p.Glu87ArgfsTer14 | |
| ENST00000376228.9:c.259del | ENSP00000365402.5:p.Glu87ArgfsTer14 | |
| ENST00000376237.8:c.259del | ENSP00000365412.4:p.Glu87ArgfsTer14 | |
| ENST00000383329.7:c.259del | ENSP00000372819.3:p.Glu87ArgfsTer14 | |
| ENST00000415537.1:c.257del | ||
| ENST00000484378.1:n.278del | ||
| ENST00000487245.5:n.368del | ||
| ENST00000495835.1:n.448del | ||
| NM_002117.5:c.259del | NP_002108.4:p.Glu87ArgfsTer14 | |
| NM_002117.6:c.259del MANE Select | NP_002108.4:p.Glu87ArgfsTer14 |