gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001768 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00001029 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35107387dup , CM000679.2:g.35107387dup | GRCh38 |
| NC_000017.10:g.33434406dup , CM000679.1:g.33434406dup | GRCh37 |
| NC_000017.9:g.30458519dup | NCBI36 |
| NG_031858.1:g.17485dup , LRG_516:g.17485dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.326dup | ENSP00000468273.3:p.Gly110ArgfsTer2 | |
| ENST00000587405.6:c.-32dup | ENSP00000466478.2:n.-32dup | |
| ENST00000590016.6:c.386dup | ENSP00000466399.1:p.Gly130ArgfsTer2 | |
| ENST00000590631.2:n.437-904dup | ||
| ENST00000592577.6:c.-32dup | ENSP00000466839.2:n.-32dup | |
| ENST00000345365.11:c.326dup MANE Select | ENSP00000338790.6:p.Gly110ArgfsTer2 | |
| ENST00000335858.11:c.145-904dup | ENSP00000338408.6:n.145-904dup | |
| ENST00000345365.10:c.326dup | ENSP00000338790.6:p.Gly110ArgfsTer2 | |
| ENST00000394589.8:c.326dup | ENSP00000378090.4:p.Gly110ArgfsTer2 | |
| ENST00000415064.6:n.476dup | ||
| ENST00000460118.6:c.-145dup | ENSP00000464356.2:n.-145dup | |
| ENST00000585343.5:c.408dup | ||
| ENST00000585947.5:n.222dup | ||
| ENST00000585982.5:n.481dup | ||
| ENST00000586044.5:c.*57dup | ENSP00000465584.1:n.*57dup | |
| ENST00000586186.2:c.229dup | ||
| ENST00000586210.5:c.264-263dup | ENSP00000465612.1:n.264-263dup | |
| ENST00000587405.5:c.-32dup | ENSP00000466478.1:n.-32dup | |
| ENST00000587977.5:c.*86-263dup | ENSP00000466587.1:n.*86-263dup | |
| ENST00000587982.5:n.254dup | ||
| ENST00000588372.5:c.-32dup | ENSP00000468764.1:n.-32dup | |
| ENST00000588594.5:c.*57dup | ENSP00000465366.1:n.*57dup | |
| ENST00000589506.1:n.418dup | ||
| ENST00000590016.5:c.386dup | ENSP00000466399.1:p.Gly130ArgfsTer2 | |
| ENST00000590631.1:c.-51-904dup | ENSP00000465033.1:n.-51-904dup | |
| ENST00000591723.5:c.-71dup | ENSP00000467986.1:n.-71dup | |
| ENST00000592181.1:c.-32dup | ENSP00000464799.1:n.-32dup | |
| ENST00000592430.5:n.295dup | ||
| ENST00000592577.5:c.332dup | ENSP00000466839.1:p.Gly112ArgfsTer2 | |
| ENST00000592850.5:c.346-904dup | ||
| ENST00000592928.2:n.167-904dup | ||
| ENST00000593039.5:c.4-904dup | ENSP00000466834.1:n.4-904dup | |
| NM_001142571.1:c.386dup | NP_001136043.1:p.Gly130ArgfsTer2 | |
| NM_002878.3:c.326dup , LRG_516t1:c.326dup | NP_002869.3:p.Gly110ArgfsTer2 | |
| NM_133629.2:c.145-904dup | NP_598332.1:n.145-904dup | |
| NR_037711.1:n.463dup | ||
| NR_037712.1:n.463dup | ||
| NR_037714.1:n.233-904dup | ||
| NM_001142571.2:c.386dup | NP_001136043.1:p.Gly130ArgfsTer2 | |
| NM_133629.3:c.145-904dup | NP_598332.1:n.145-904dup | |
| NR_037711.2:n.352dup | ||
| NR_037712.2:n.352dup | ||
| NM_002878.4:c.326dup MANE Select | NP_002869.3:p.Gly110ArgfsTer2 |