gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0002585 (EAS)
Genomes Max Group AF
0.00006818 (EAS)
Exomes Max Group AF
0.00025247 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144429805_144429807del , CM000664.2:g.144429805_144429807del | GRCh38 |
| NC_000002.11:g.145187372_145187374del , CM000664.1:g.145187372_145187374del | GRCh37 |
| NC_000002.10:g.144903842_144903844del | NCBI36 |
| NG_016431.1:g.95590_95592del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000637591.2:n.447_449del | ||
| ENST00000689298.1:c.*219_*221del | ENSP00000508434.1:n.*219_*221del | |
| ENST00000440875.6:c.-408_-406del | ENSP00000475553.3:n.-408_-406del | |
| ENST00000627532.3:c.298_300del MANE Select | ENSP00000487174.1:p.Asn100del | |
| ENST00000636026.2:c.298_300del | ENSP00000490776.1:p.Asn100del | |
| ENST00000636179.1:n.267_269del | ||
| ENST00000636413.1:c.-39_-37del | ENSP00000490508.1:n.-39_-37del | |
| ENST00000636471.1:c.298_300del | ENSP00000490317.1:p.Asn100del | |
| ENST00000636732.2:c.298_300del | ENSP00000490175.1:p.Asn100del | |
| ENST00000636820.1:n.398_400del | ||
| ENST00000637045.1:c.-39_-37del | ENSP00000490141.1:n.-39_-37del | |
| ENST00000637267.2:c.298_300del | ENSP00000490293.2:p.Asn100del | |
| ENST00000637304.1:c.-39_-37del | ENSP00000490872.1:n.-39_-37del | |
| ENST00000638007.1:c.-39_-37del | ENSP00000490723.1:n.-39_-37del | |
| ENST00000638087.1:c.-39_-37del | ENSP00000490673.1:n.-39_-37del | |
| ENST00000638128.1:c.-408_-406del | ENSP00000490934.1:n.-408_-406del | |
| ENST00000675069.1:c.-133-30952_-133-30950del | ENSP00000502467.1:n.-133-30952_-133-30950del | |
| ENST00000303660.8:c.298_300del | ENSP00000302501.4:p.Asn100del | |
| ENST00000392861.6:c.382_384del | ENSP00000376601.3:p.Asn128del | |
| ENST00000409211.5:c.298_300del | ENSP00000387256.2:p.Asn100del | |
| ENST00000409487.7:c.298_300del | ENSP00000386854.2:p.Asn100del | |
| ENST00000419938.5:c.298_300del | ENSP00000394777.2:p.Asn100del | |
| ENST00000427902.5:c.385_387del | ENSP00000395496.2:p.Asn129del | |
| ENST00000431672.4:c.298_300del | ENSP00000475267.2:p.Asn100del | |
| ENST00000434448.5:c.*229_*231del | ENSP00000487261.1:n.*229_*231del | |
| ENST00000440875.5:c.283_285del | ENSP00000475553.2:p.Asn95del | |
| ENST00000461784.3:n.505_507del | ||
| ENST00000465308.5:c.298_300del | ENSP00000487476.1:p.Asn100del | |
| ENST00000472146.5:n.548_550del | ||
| ENST00000476394.5:n.402_404del | ||
| ENST00000479735.1:n.529_531del | ||
| ENST00000539609.7:c.298_300del | ENSP00000443792.2:p.Asn100del | |
| ENST00000558170.6:c.298_300del | ENSP00000454157.1:p.Asn100del | |
| ENST00000627532.2:c.298_300del | ENSP00000487174.1:p.Asn100del | |
| ENST00000627856.2:n.258_260del | ||
| NM_001171653.1:c.298_300del | NP_001165124.1:p.Asn100del | |
| NM_014795.3:c.298_300del | NP_055610.1:p.Asn100del | |
| XM_006712881.2:c.298_300del | XP_006712944.1:p.Asn100del | |
| XM_006712882.2:c.298_300del | XP_006712945.1:p.Asn100del | |
| XM_011512231.1:c.289_291del | XP_011510533.1:p.Asn97del | |
| XM_011512232.1:c.277_279del | XP_011510534.1:p.Asn93del | |
| NM_014795.4:c.298_300del MANE Select | NP_055610.1:p.Asn100del | |
| NM_001171653.2:c.298_300del | NP_001165124.1:p.Asn100del |