Linked Data
gnomAD v4:
6-31269346-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269347del , CM000668.2:g.31269347del | GRCh38 |
| NC_000006.11:g.31237124del , CM000668.1:g.31237124del | GRCh37 |
| NC_000006.10:g.31345103del | NCBI36 |
| NG_029422.2:g.7785del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.1087del MANE Select | ENSP00000365402.5:p.Thr363LeufsTer? | |
| ENST00000376228.9:c.1087del | ENSP00000365402.5:p.Thr363LeufsTer? | |
| ENST00000376237.8:c.*674del | ENSP00000365412.4:n.*674del | |
| ENST00000383329.7:c.1105del | ENSP00000372819.3:p.Thr369LeufsTer? | |
| ENST00000466892.5:n.320del | ||
| ENST00000470363.5:n.845del | ||
| ENST00000487245.5:n.1446del | ||
| NM_002117.5:c.1087del | NP_002108.4:p.Thr363LeufsTer? | |
| NM_002117.6:c.1087del MANE Select | NP_002108.4:p.Thr363LeufsTer? |