gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000578 (AMR)
Exomes Max Group AF
0.00000786 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32081653del , CM000668.2:g.32081653del | GRCh38 |
| NC_000006.11:g.32049430del , CM000668.1:g.32049430del | GRCh37 |
| NC_000006.10:g.32157408del | NCBI36 |
| NG_008337.2:g.32728del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644971.2:c.3763del MANE Select | ENSP00000496448.1:p.Arg1255AlafsTer13 | |
| ENST00000647633.1:c.4504del | ENSP00000497649.1:p.Arg1502AlafsTer13 | |
| ENST00000375244.7:c.3763del | ENSP00000364393.3:p.Arg1255AlafsTer13 | |
| ENST00000613214.4:c.4024del | ENSP00000480067.1:p.Arg1342AlafsTer13 | |
| NM_019105.6:c.3763del | NP_061978.6:p.Arg1255AlafsTer13 | |
| NM_001365276.1:c.3763del | NP_001352205.1:p.Arg1255AlafsTer13 | |
| NM_019105.7:c.3763del | NP_061978.6:p.Arg1255AlafsTer13 | |
| NM_001365276.2:c.3763del MANE Select | NP_001352205.1:p.Arg1255AlafsTer13 | |
| NM_019105.8:c.3763del | NP_061978.6:p.Arg1255AlafsTer13 |