gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33947260del , CM000667.2:g.33947260del | GRCh38 |
| NC_000005.9:g.33947365del , CM000667.1:g.33947365del | GRCh37 |
| NC_000005.8:g.33983122del | NCBI36 |
| NG_011691.2:g.42418del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.1273del MANE Select | ENSP00000296589.4:p.Leu425TrpfsTer9 | |
| ENST00000296589.8:c.1273del | ENSP00000296589.4:p.Leu425TrpfsTer9 | |
| ENST00000382102.7:c.1273del | ENSP00000371534.3:p.Leu425TrpfsTer9 | |
| NM_001012509.3:c.1273del | NP_001012527.1:p.Leu425TrpfsTer9 | |
| NM_016180.4:c.1273del | NP_057264.3:p.Leu425TrpfsTer9 | |
| XM_011514051.1:c.871del | XP_011512353.1:p.Leu291TrpfsTer9 | |
| NM_016180.5:c.1273del MANE Select | NP_057264.4:p.Leu425TrpfsTer9 | |
| NM_001012509.4:c.1273del | NP_001012527.2:p.Leu425TrpfsTer9 |