gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00003937 (NFE)
Exomes Max Group AF
0.00004178 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51942398del , CM000675.2:g.51942398del | GRCh38 |
| NC_000013.10:g.52516534del , CM000675.1:g.52516534del | GRCh37 |
| NC_000013.9:g.51414535del | NCBI36 |
| NG_008806.1:g.74099del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1052del | ENSP00000489512.2:n.*1052del | |
| ENST00000673864.2:c.*2146del | ENSP00000501045.2:n.*2146del | |
| ENST00000674147.2:c.2781del | ENSP00000500964.2:p.Ala928GlnfsTer13 | |
| ENST00000242839.10:c.3402del MANE Select | ENSP00000242839.5:p.Ala1135GlnfsTer13 | |
| ENST00000344297.9:c.2781del | ENSP00000342559.5:p.Ala928GlnfsTer13 | |
| ENST00000400366.6:c.3069del | ENSP00000383217.3:p.Ala1024GlnfsTer13 | |
| ENST00000448424.7:c.3150del | ENSP00000416738.3:p.Ala1051GlnfsTer13 | |
| ENST00000673772.1:c.3168del | ENSP00000501168.1:p.Ala1057GlnfsTer13 | |
| ENST00000673867.1:n.3541del | ||
| ENST00000674126.1:n.3765del | ||
| ENST00000674147.1:c.2337del | ENSP00000500964.1:p.Ala780GlnfsTer13 | |
| ENST00000242839.8:c.3402del | ENSP00000242839.4:p.Ala1135GlnfsTer13 | |
| ENST00000344297.8:c.2781del | ENSP00000342559.5:p.Ala928GlnfsTer13 | |
| ENST00000400366.5:c.3069del | ENSP00000383217.3:p.Ala1024GlnfsTer13 | |
| ENST00000400370.8:c.2112del | ENSP00000383221.3:p.Ala705GlnfsTer13 | |
| ENST00000418097.7:c.3207del | ENSP00000393343.2:p.Ala1070GlnfsTer13 | |
| ENST00000448424.6:c.3168del | ENSP00000416738.2:p.Ala1057GlnfsTer13 | |
| ENST00000634296.1:c.1180del | ||
| ENST00000634308.1:c.*503del | ENSP00000489234.1:n.*503del | |
| ENST00000634620.1:n.4146del | ||
| ENST00000634810.1:n.2747del | ||
| ENST00000634844.1:c.3258del | ENSP00000489398.1:p.Ala1087GlnfsTer13 | |
| NM_000053.3:c.3402del | NP_000044.2:p.Ala1135GlnfsTer13 | |
| NM_001005918.2:c.2781del | NP_001005918.1:p.Ala928GlnfsTer13 | |
| NM_001243182.1:c.3069del | NP_001230111.1:p.Ala1024GlnfsTer13 | |
| XM_005266423.2:c.3306del | XP_005266480.1:p.Ala1103GlnfsTer13 | |
| XM_005266424.3:c.3306del | XP_005266481.1:p.Ala1103GlnfsTer13 | |
| XM_005266427.2:c.3168del | XP_005266484.1:p.Ala1057GlnfsTer13 | |
| XM_005266428.1:c.3150del | XP_005266485.1:p.Ala1051GlnfsTer13 | |
| XM_005266430.3:c.3402del | XP_005266487.1:p.Ala1135GlnfsTer13 | |
| XM_005266431.2:c.3366del | XP_005266488.1:p.Ala1123GlnfsTer13 | |
| XM_005266432.2:c.2916del | XP_005266489.1:p.Ala973GlnfsTer13 | |
| XM_006719837.2:c.3306del | XP_006719900.1:p.Ala1103GlnfsTer13 | |
| XM_006719838.1:c.1218del | XP_006719901.1:p.Ala407GlnfsTer13 | |
| XM_006719839.1:c.1035del | XP_006719902.1:p.Ala346GlnfsTer13 | |
| XM_011535117.1:c.3306del | XP_011533419.1:p.Ala1103GlnfsTer13 | |
| XM_011535118.1:c.3267del | XP_011533420.1:p.Ala1090GlnfsTer13 | |
| XM_011535119.1:c.3219del | XP_011533421.1:p.Ala1074GlnfsTer13 | |
| XM_011535120.1:c.2988del | XP_011533422.1:p.Ala997GlnfsTer13 | |
| XM_011535121.1:c.2889del | XP_011533423.1:p.Ala964GlnfsTer13 | |
| XM_011535122.1:c.2070del | XP_011533424.1:p.Ala691GlnfsTer13 | |
| XR_941601.1:n.3621del | ||
| XR_941602.1:n.3621del | ||
| XR_941603.1:n.3621del | ||
| XR_941604.1:n.3621del | ||
| NM_001330578.1:c.3168del | NP_001317507.1:p.Ala1057GlnfsTer13 | |
| NM_001330579.1:c.3150del | NP_001317508.1:p.Ala1051GlnfsTer13 | |
| XM_005266424.4:c.3306del | XP_005266481.1:p.Ala1103GlnfsTer13 | |
| XM_005266430.4:c.3402del | XP_005266487.1:p.Ala1135GlnfsTer13 | |
| XM_005266431.4:c.3366del | XP_005266488.1:p.Ala1123GlnfsTer13 | |
| XM_006719837.3:c.3306del | XP_006719900.1:p.Ala1103GlnfsTer13 | |
| XM_011535117.3:c.3306del | XP_011533419.1:p.Ala1103GlnfsTer13 | |
| XM_017020627.1:c.3306del | XP_016876116.1:p.Ala1103GlnfsTer13 | |
| NM_000053.4:c.3402del MANE Select | NP_000044.2:p.Ala1135GlnfsTer13 | |
| NM_001005918.3:c.2781del | NP_001005918.1:p.Ala928GlnfsTer13 | |
| NM_001330579.2:c.3150del | NP_001317508.1:p.Ala1051GlnfsTer13 | |
| NM_001243182.2:c.3069del | NP_001230111.1:p.Ala1024GlnfsTer13 | |
| NM_001330578.2:c.3168del | NP_001317507.1:p.Ala1057GlnfsTer13 |