gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.25733929_25733931del , CM000665.2:g.25733929_25733931del | GRCh38 |
| NC_000003.11:g.25775420_25775422del , CM000665.1:g.25775420_25775422del | GRCh37 |
| NC_000003.10:g.25750424_25750426del | NCBI36 |
| NG_034108.1:g.61113_61115del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280700.10:c.1205_1207del MANE Select | ENSP00000280700.5:p.Arg402del | |
| ENST00000463611.2:c.*1296_*1298del | ENSP00000501918.1:n.*1296_*1298del | |
| ENST00000674841.1:n.1328_1330del | ||
| ENST00000675178.1:n.223_225del | ||
| ENST00000675217.1:c.*578_*580del | ENSP00000502195.1:n.*578_*580del | |
| ENST00000675234.1:c.*702_*704del | ENSP00000502740.1:n.*702_*704del | |
| ENST00000675680.1:c.684_686del | ||
| ENST00000676225.1:c.1175_1177del | ENSP00000501622.1:p.Arg392del | |
| ENST00000280699.13:c.956_958del | ||
| ENST00000280700.9:c.1205_1207del | ENSP00000280700.5:p.Arg402del | |
| ENST00000308710.9:c.1142_1144del | ENSP00000307980.5:p.Arg381del | |
| ENST00000396649.7:c.1205_1207del | ENSP00000379886.3:p.Arg402del | |
| ENST00000417874.6:c.1079_1081del | ENSP00000389888.2:p.Arg360del | |
| ENST00000428257.5:c.1151_1153del | ENSP00000387430.1:p.Arg384del | |
| ENST00000467224.5:n.58_60del | ||
| ENST00000493324.5:n.2108_2110del | ||
| ENST00000496726.5:n.2420_2422del | ||
| NM_001145293.1:c.1151_1153del | NP_001138765.1:p.Arg384del | |
| NM_001145294.1:c.1079_1081del | NP_001138766.1:p.Arg360del | |
| NM_001145295.1:c.1205_1207del | NP_001138767.1:p.Arg402del | |
| NM_018297.3:c.1205_1207del | NP_060767.2:p.Arg402del | |
| XM_005265316.1:c.1205_1207del | XP_005265373.1:p.Arg402del | |
| XM_005265317.1:c.1205_1207del | XP_005265374.1:p.Arg402del | |
| XM_011533944.1:c.974_976del | XP_011532246.1:p.Arg325del | |
| XM_011533945.1:c.*48_*50del | XP_011532247.1:n.*48_*50del | |
| XR_940470.1:n.1258_1260del | ||
| XR_940471.1:n.1350_1352del | ||
| XM_017006839.2:c.1205_1207del | XP_016862328.1:p.Arg402del | |
| XR_001740200.2:n.1350_1352del | ||
| XR_002959548.1:n.1112_1114del | ||
| XR_940471.2:n.1350_1352del | ||
| NM_018297.4:c.1205_1207del MANE Select | NP_060767.2:p.Arg402del | |
| NM_001145293.2:c.1151_1153del | NP_001138765.1:p.Arg384del | |
| NM_001145294.2:c.1079_1081del | NP_001138766.1:p.Arg360del | |
| NM_001145295.2:c.1205_1207del | NP_001138767.1:p.Arg402del |