gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.00000799 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80162319del , CM000677.2:g.80162319del | GRCh38 |
| NC_000015.9:g.80454661del , CM000677.1:g.80454661del | GRCh37 |
| NC_000015.8:g.78241716del | NCBI36 |
| NG_012833.1:g.14321del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.438del | ENSP00000507680.1:p.Asn146LysfsTer3 | |
| ENST00000682012.1:n.513del | ||
| ENST00000683593.1:n.2101del | ||
| ENST00000684363.1:c.365-73del | ENSP00000507314.1:n.365-73del | |
| ENST00000684569.1:n.483del | ||
| ENST00000561421.6:c.438del MANE Select | ENSP00000453347.2:p.Asn146LysfsTer3 | |
| ENST00000646551.1:n.1925del | ||
| ENST00000261755.9:c.438del | ENSP00000261755.5:p.Asn146LysfsTer3 | |
| ENST00000407106.5:c.438del | ENSP00000385080.1:p.Asn146LysfsTer3 | |
| ENST00000537726.5:n.584del | ||
| ENST00000539156.5:c.228del | ENSP00000454271.1:p.Asn76LysfsTer3 | |
| ENST00000558022.5:c.438del | ENSP00000453152.1:p.Asn146LysfsTer3 | |
| ENST00000558627.1:n.366del | ||
| ENST00000558767.5:n.699del | ||
| ENST00000561369.1:n.582del | ||
| ENST00000561421.5:c.438del | ENSP00000453347.1:p.Asn146LysfsTer3 | |
| NM_000137.2:c.438del | NP_000128.1:p.Asn146LysfsTer3 | |
| XM_024449872.1:c.438del | XP_024305640.1:p.Asn146LysfsTer3 | |
| NM_000137.4:c.438del MANE Select | NP_000128.1:p.Asn146LysfsTer3 | |
| NM_001374377.1:c.438del | NP_001361306.1:p.Asn146LysfsTer3 | |
| NM_001374380.1:c.438del | NP_001361309.1:p.Asn146LysfsTer3 |