gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35106398del , CM000679.2:g.35106398del | GRCh38 |
| NC_000017.10:g.33433417del , CM000679.1:g.33433417del | GRCh37 |
| NC_000017.9:g.30457530del | NCBI36 |
| NG_031858.1:g.18472del , LRG_516:g.18472del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.429del | ENSP00000468273.3:p.Val144TrpfsTer5 | |
| ENST00000587405.6:c.207del | ENSP00000466478.2:p.Val70TrpfsTer5 | |
| ENST00000590016.6:c.624del | ENSP00000466399.1:p.Val209TrpfsTer5 | |
| ENST00000590631.2:n.520del | ||
| ENST00000592577.6:c.207del | ENSP00000466839.2:p.Val70TrpfsTer5 | |
| ENST00000345365.11:c.564del MANE Select | ENSP00000338790.6:p.Val189TrpfsTer5 | |
| ENST00000335858.11:c.228del | ENSP00000338408.6:p.Val77TrpfsTer5 | |
| ENST00000345365.10:c.564del | ENSP00000338790.6:p.Val189TrpfsTer5 | |
| ENST00000394589.8:c.564del | ENSP00000378090.4:p.Val189TrpfsTer5 | |
| ENST00000415064.6:n.714del | ||
| ENST00000460118.6:c.33del | ENSP00000464356.2:p.Val12TrpfsTer5 | |
| ENST00000585947.5:n.460del | ||
| ENST00000585982.5:n.584del | ||
| ENST00000586044.5:c.*295del | ENSP00000465584.1:n.*295del | |
| ENST00000586210.5:c.*158del | ENSP00000465612.1:n.*158del | |
| ENST00000587405.5:c.207del | ENSP00000466478.1:p.Val70TrpfsTer5 | |
| ENST00000587977.5:c.*304del | ENSP00000466587.1:n.*304del | |
| ENST00000587982.5:n.357del | ||
| ENST00000588372.5:c.207del | ENSP00000468764.1:p.Val70TrpfsTer11 | |
| ENST00000588594.5:c.*160del | ENSP00000465366.1:n.*160del | |
| ENST00000590016.5:c.624del | ENSP00000466399.1:p.Val209TrpfsTer5 | |
| ENST00000590631.1:c.33del | ENSP00000465033.1:p.Val12TrpfsTer5 | |
| ENST00000591723.5:c.33del | ENSP00000467986.1:p.Val12TrpfsTer5 | |
| ENST00000592181.1:c.207del | ENSP00000464799.1:p.Val70TrpfsTer5 | |
| ENST00000592430.5:n.533del | ||
| ENST00000592577.5:c.570del | ENSP00000466839.1:p.Val191TrpfsTer5 | |
| ENST00000593039.5:c.87del | ENSP00000466834.1:p.Val30TrpfsTer5 | |
| NM_001142571.1:c.624del | NP_001136043.1:p.Val209TrpfsTer5 | |
| NM_002878.3:c.564del , LRG_516t1:c.564del | NP_002869.3:p.Val189TrpfsTer5 | |
| NM_133629.2:c.228del | NP_598332.1:p.Val77TrpfsTer5 | |
| NR_037711.1:n.701del | ||
| NR_037712.1:n.566del | ||
| NR_037714.1:n.316del | ||
| NM_001142571.2:c.624del | NP_001136043.1:p.Val209TrpfsTer5 | |
| NM_133629.3:c.228del | NP_598332.1:p.Val77TrpfsTer5 | |
| NR_037711.2:n.590del | ||
| NR_037712.2:n.455del | ||
| NM_002878.4:c.564del MANE Select | NP_002869.3:p.Val189TrpfsTer5 |