gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005279 (AFR)
Genomes Max Group AF
0.00003249 (AFR)
Exomes Max Group AF
0.00003982 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48467155del , CM000665.2:g.48467155del | GRCh38 |
| NC_000003.11:g.48508554del , CM000665.1:g.48508554del | GRCh37 |
| NC_000003.10:g.48483558del | NCBI36 |
| NG_009820.1:g.6326del | |
| NG_033100.1:g.38706del | |
| NG_041782.1:g.25446del | |
| NG_009820.2:g.6326del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320211.10:c.*1601del (ATRIP) MANE Select | ENSP00000323099.3:n.*1601del | |
| ENST00000492235.2:c.83del (TREX1) | ENSP00000494511.1:p.Ser28ThrfsTer13 | |
| ENST00000625293.3:c.500del (TREX1) MANE Select | ENSP00000486676.2:p.Ser167ThrfsTer13 | |
| ENST00000634384.2:c.3095del (ATRIP) | ||
| ENST00000635452.2:c.83del (TREX1) | ENSP00000492023.2:p.Ser28ThrfsTer13 | |
| ENST00000296443.11:c.500del | ENSP00000296443.11:p.Ser167ThrfsTer13 | |
| ENST00000433541.1:c.83del (TREX1) | ENSP00000412404.1:p.Ser28ThrfsTer13 | |
| ENST00000444177.1:c.470del (TREX1) | ENSP00000415972.1:p.Ser157ThrfsTer13 | |
| ENST00000456089.1:c.83del (TREX1) | ENSP00000411331.1:p.Ser28ThrfsTer13 | |
| ENST00000492235.1:n.418del (TREX1) | ||
| ENST00000625293.1:c.665del (TREX1) | ENSP00000486676.1:p.Ser222ThrfsTer13 | |
| ENST00000629913.1:c.500del (TREX1) | ENSP00000486444.1:p.Ser167ThrfsTer13 | |
| ENST00000634384.1:c.*3320del | ENSP00000489041.1:n.*3320del | |
| ENST00000635452.1:n.1707del | ||
| ENST00000635464.1:c.3453del | ENSP00000489199.1:n.3453del | |
| NM_007248.3:c.470del (TREX1) | NP_009179.2:p.Ser157ThrfsTer13 | |
| NM_016381.5:c.665del (TREX1) | NP_057465.1:p.Ser222ThrfsTer13 | |
| NM_033629.4:c.500del (TREX1) | NP_338599.1:p.Ser167ThrfsTer13 | |
| NM_007248.4:c.470del (TREX1) | NP_009179.2:p.Ser157ThrfsTer13 | |
| NM_033629.5:c.500del (TREX1) | NP_338599.1:p.Ser167ThrfsTer13 | |
| NR_153405.1:n.3809del | ||
| NM_033629.6:c.500del (TREX1) MANE Select | NP_338599.1:p.Ser167ThrfsTer13 | |
| NM_130384.3:c.*1601del (ATRIP) MANE Select | NP_569055.1:n.*1601del | |
| NM_001271023.2:c.*1601del (ATRIP) | NP_001257952.1:n.*1601del | |
| NM_007248.5:c.470del (TREX1) | NP_009179.2:p.Ser157ThrfsTer13 | |
| NM_032166.4:c.*1601del (ATRIP) | NP_115542.2:n.*1601del | |
| NM_001271022.2:c.*1601del (ATRIP) | NP_001257951.1:n.*1601del |