Linked Data
gnomAD v4:
12-57763697-ATGGGTGGGGGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763702_57763712del , CM000674.2:g.57763702_57763712del | GRCh38 |
| NC_000012.11:g.58157485_58157495del , CM000674.1:g.58157485_58157495del | GRCh37 |
| NC_000012.10:g.56443752_56443762del | NCBI36 |
| NG_007076.1:g.8486_8496del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1397_1407del | ENSP00000518840.1:p.Thr466IlefsTer22 | |
| ENST00000713545.1:c.*321_*331del | ENSP00000518841.1:n.*321_*331del | |
| ENST00000228606.9:c.1316_1326del MANE Select | ENSP00000228606.4:p.Thr439IlefsTer22 | |
| ENST00000228606.8:c.1316_1326del | ENSP00000228606.4:p.Thr439IlefsTer22 | |
| ENST00000547344.5:n.1455_1465del | ||
| NM_000785.3:c.1316_1326del | NP_000776.1:p.Thr439IlefsTer22 | |
| NM_000785.4:c.1316_1326del MANE Select | NP_000776.1:p.Thr439IlefsTer22 |