Linked Data
gnomAD v4:
11-124872969-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124872972_124872973del , CM000673.2:g.124872972_124872973del | GRCh38 |
| NC_000011.9:g.124742868_124742869del , CM000673.1:g.124742868_124742869del | GRCh37 |
| NC_000011.8:g.124248078_124248079del | NCBI36 |
| NG_016214.1:g.12564_12565del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397801.6:c.1419_1420del MANE Select | ENSP00000380903.1:p.Arg473SerfsTer22 | |
| ENST00000397801.5:c.1419_1420del | ENSP00000380903.1:p.Arg473SerfsTer22 | |
| ENST00000538940.5:c.1353_1354del | ENSP00000441797.1:p.Arg451SerfsTer22 | |
| NM_022370.3:c.1419_1420del | NP_071765.2:p.Arg473SerfsTer22 | |
| XM_011542953.1:c.2391_2392del | XP_011541255.1:p.Arg797SerfsTer22 | |
| XM_017018122.1:c.1353_1354del | XP_016873611.1:p.Arg451SerfsTer22 | |
| NM_022370.4:c.1419_1420del MANE Select | NP_071765.2:p.Arg473SerfsTer22 |