Linked Data
gnomAD v4:
6-31269038-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269040del , CM000668.2:g.31269040del | GRCh38 |
| NC_000006.11:g.31236817del , CM000668.1:g.31236817del | GRCh37 |
| NC_000006.10:g.31344796del | NCBI36 |
| NG_029422.2:g.8093del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.*130del MANE Select | ENSP00000365402.5:n.*130del | |
| ENST00000376228.9:c.*130del | ENSP00000365402.5:n.*130del | |
| ENST00000376237.8:c.*818del | ENSP00000365412.4:n.*818del | |
| ENST00000383329.7:c.*130del | ENSP00000372819.3:n.*130del | |
| ENST00000466892.5:n.464del | ||
| ENST00000470363.5:n.989del | ||
| ENST00000487245.5:n.1590del | ||
| NM_002117.5:c.*130del | NP_002108.4:n.*130del | |
| NM_002117.6:c.*130del MANE Select | NP_002108.4:n.*130del |