Linked Data
gnomAD v4:
6-31271646-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271648del , CM000668.2:g.31271648del | GRCh38 |
| NC_000006.11:g.31239425del , CM000668.1:g.31239425del | GRCh37 |
| NC_000006.10:g.31347404del | NCBI36 |
| NG_029422.2:g.5485del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.295del MANE Select | ENSP00000365402.5:p.Arg99GlufsTer2 | |
| ENST00000376228.9:c.295del | ENSP00000365402.5:p.Arg99GlufsTer2 | |
| ENST00000376237.8:c.295del | ENSP00000365412.4:p.Arg99GlufsTer2 | |
| ENST00000383329.7:c.295del | ENSP00000372819.3:p.Arg99GlufsTer2 | |
| ENST00000415537.1:c.293del | ||
| ENST00000484378.1:n.314del | ||
| ENST00000487245.5:n.404del | ||
| ENST00000495835.1:n.484del | ||
| NM_002117.5:c.295del | NP_002108.4:p.Arg99GlufsTer2 | |
| NM_002117.6:c.295del MANE Select | NP_002108.4:p.Arg99GlufsTer2 |