gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000315 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00002999 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3916956_3916958del , CM000682.2:g.3916956_3916958del | GRCh38 |
| NC_000020.10:g.3897603_3897605del , CM000682.1:g.3897603_3897605del | GRCh37 |
| NC_000020.9:g.3845603_3845605del | NCBI36 |
| NG_008131.3:g.33118_33120del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610179.7:c.1112_1114del MANE Select | ENSP00000477429.2:p.Arg371_Glu372delinsGln | |
| ENST00000316562.9:c.1442_1444del | ENSP00000313377.4:p.Arg481_Glu482delinsGln | |
| ENST00000336066.8:c.*453_*455del | ENSP00000477229.2:n.*453_*455del | |
| ENST00000610179.6:c.1112_1114del | ENSP00000477429.2:p.Arg371_Glu372delinsGln | |
| ENST00000643504.2:c.*742_*744del | ENSP00000495157.2:n.*742_*744del | |
| ENST00000646394.1:c.939_941del | ||
| ENST00000316562.8:c.1442_1444del | ENSP00000313377.4:p.Arg481_Glu482delinsGln | |
| ENST00000336066.7:c.*453_*455del | ENSP00000477229.1:n.*453_*455del | |
| ENST00000464452.1:n.677_679del | ||
| ENST00000495692.5:c.134_136del | ENSP00000476745.1:p.Arg45_Glu46delinsGln | |
| ENST00000497424.5:c.569_571del | ENSP00000417609.1:p.Arg190_Glu191delinsGln | |
| ENST00000610179.5:c.1073_1075del | ENSP00000477429.1:p.Arg358_Glu359delinsGln | |
| ENST00000621507.1:c.569_571del | ENSP00000481523.1:p.Arg190_Glu191delinsGln | |
| NM_024960.4:c.569_571del | NP_079236.3:p.Arg190_Glu191delinsGln | |
| NM_153638.2:c.1442_1444del | NP_705902.2:p.Arg481_Glu482delinsGln | |
| NM_153640.2:c.569_571del | NP_705904.1:p.Arg190_Glu191delinsGln | |
| XM_005260835.2:c.827_829del | XP_005260892.1:p.Arg276_Glu277delinsGln | |
| XM_005260836.3:c.569_571del | XP_005260893.3:p.Arg190_Glu191delinsGln | |
| XM_006723631.1:c.569_571del | XP_006723694.1:p.Arg190_Glu191delinsGln | |
| XM_011529364.1:c.1265_1267del | XP_011527666.1:p.Arg422_Glu423delinsGln | |
| NM_001324191.1:c.569_571del | NP_001311120.1:p.Arg190_Glu191delinsGln | |
| NM_001324193.1:c.134_136del | NP_001311122.1:p.Arg45_Glu46delinsGln | |
| NM_024960.5:c.569_571del | NP_079236.3:p.Arg190_Glu191delinsGln | |
| NM_153638.3:c.1442_1444del | NP_705902.2:p.Arg481_Glu482delinsGln | |
| NM_153640.3:c.569_571del | NP_705904.1:p.Arg190_Glu191delinsGln | |
| NR_136715.1:n.1466_1468del | ||
| XM_005260835.3:c.827_829del | XP_005260892.1:p.Arg276_Glu277delinsGln | |
| XM_005260836.4:c.569_571del | XP_005260893.3:p.Arg190_Glu191delinsGln | |
| XM_011529364.3:c.1265_1267del | XP_011527666.1:p.Arg422_Glu423delinsGln | |
| XM_017028077.2:c.134_136del | XP_016883566.1:p.Arg45_Glu46delinsGln | |
| XM_017028078.2:c.134_136del | XP_016883567.1:p.Arg45_Glu46delinsGln | |
| XM_017028079.2:c.134_136del | XP_016883568.1:p.Arg45_Glu46delinsGln | |
| XM_024452002.1:c.134_136del | XP_024307770.1:p.Arg45_Glu46delinsGln | |
| XR_002958533.1:n.2230_2232del | ||
| NM_001324191.2:c.569_571del | NP_001311120.1:p.Arg190_Glu191delinsGln | |
| NM_001324193.2:c.134_136del | NP_001311122.1:p.Arg45_Glu46delinsGln | |
| NM_024960.6:c.569_571del | NP_079236.3:p.Arg190_Glu191delinsGln | |
| NR_136715.2:n.1013_1015del | ||
| NM_001386393.1:c.1112_1114del MANE Select | NP_001373322.1:p.Arg371_Glu372delinsGln | |
| NM_153638.4:c.1442_1444del | NP_705902.2:p.Arg481_Glu482delinsGln | |
| NM_153640.4:c.569_571del | NP_705904.1:p.Arg190_Glu191delinsGln |