Linked Data
gnomAD v4:
6-31271661-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271663del , CM000668.2:g.31271663del | GRCh38 |
| NC_000006.11:g.31239440del , CM000668.1:g.31239440del | GRCh37 |
| NC_000006.10:g.31347419del | NCBI36 |
| NG_029422.2:g.5470del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.280del MANE Select | ENSP00000365402.5:p.Gln94ArgfsTer7 | |
| ENST00000376228.9:c.280del | ENSP00000365402.5:p.Gln94ArgfsTer7 | |
| ENST00000376237.8:c.280del | ENSP00000365412.4:p.Gln94ArgfsTer7 | |
| ENST00000383329.7:c.280del | ENSP00000372819.3:p.Gln94ArgfsTer7 | |
| ENST00000415537.1:c.278del | ||
| ENST00000484378.1:n.299del | ||
| ENST00000487245.5:n.389del | ||
| ENST00000495835.1:n.469del | ||
| NM_002117.5:c.280del | NP_002108.4:p.Gln94ArgfsTer7 | |
| NM_002117.6:c.280del MANE Select | NP_002108.4:p.Gln94ArgfsTer7 |