Linked Data
gnomAD v4:
6-31269480-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269481del , CM000668.2:g.31269481del | GRCh38 |
| NC_000006.11:g.31237258del , CM000668.1:g.31237258del | GRCh37 |
| NC_000006.10:g.31345237del | NCBI36 |
| NG_029422.2:g.7651del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1048+12del MANE Select | ENSP00000365402.5:n.1048+12del | |
| ENST00000376228.9:c.1048+12del | ENSP00000365402.5:n.1048+12del | |
| ENST00000376237.8:c.*635+12del | ENSP00000365412.4:n.*635+12del | |
| ENST00000383329.7:c.1066+12del | ENSP00000372819.3:n.1066+12del | |
| ENST00000466892.5:n.186del | ||
| ENST00000470363.5:n.806+12del | ||
| ENST00000487245.5:n.1407+12del | ||
| NM_002117.5:c.1048+12del | NP_002108.4:n.1048+12del | |
| NM_002117.6:c.1048+12del MANE Select | NP_002108.4:n.1048+12del |