MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001746 (AFR)
Exomes Max Group AF
0.00002374 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48467254_48467256dup , CM000665.2:g.48467254_48467256dup | GRCh38 |
| NC_000003.11:g.48508653_48508655dup , CM000665.1:g.48508653_48508655dup | GRCh37 |
| NC_000003.10:g.48483657_48483659dup | NCBI36 |
| NG_009820.1:g.6425_6427dup | |
| NG_033100.1:g.38607_38609dup | |
| NG_041782.1:g.25545_25547dup | |
| NG_009820.2:g.6425_6427dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320211.10:c.*1700_*1702dup (ATRIP) MANE Select | ENSP00000323099.3:n.*1700_*1702dup | |
| ENST00000492235.2:c.182_184dup (TREX1) | ENSP00000494511.1:p.Asp61_Val62insAsp | |
| ENST00000625293.3:c.599_601dup (TREX1) MANE Select | ENSP00000486676.2:p.Asp200_Val201insAsp | |
| ENST00000634384.2:c.3194_3196dup (ATRIP) | ||
| ENST00000635452.2:c.182_184dup (TREX1) | ENSP00000492023.2:p.Asp61_Val62insAsp | |
| ENST00000296443.11:c.599_601dup | ENSP00000296443.11:p.Asp200_Val201insAsp | |
| ENST00000433541.1:c.182_184dup (TREX1) | ENSP00000412404.1:p.Asp61_Val62insAsp | |
| ENST00000444177.1:c.569_571dup (TREX1) | ENSP00000415972.1:p.Asp190_Val191insAsp | |
| ENST00000456089.1:c.182_184dup (TREX1) | ENSP00000411331.1:p.Asp61_Val62insAsp | |
| ENST00000492235.1:n.517_519dup (TREX1) | ||
| ENST00000625293.1:c.764_766dup (TREX1) | ENSP00000486676.1:p.Asp255_Val256insAsp | |
| ENST00000629913.1:c.599_601dup (TREX1) | ENSP00000486444.1:p.Asp200_Val201insAsp | |
| ENST00000634384.1:c.*3419_*3421dup | ENSP00000489041.1:n.*3419_*3421dup | |
| ENST00000635452.1:n.1806_1808dup | ||
| ENST00000635464.1:c.3552_3554dup | ENSP00000489199.1:n.3552_3554dup | |
| NM_007248.3:c.569_571dup (TREX1) | NP_009179.2:p.Asp190_Val191insAsp | |
| NM_016381.5:c.764_766dup (TREX1) | NP_057465.1:p.Asp255_Val256insAsp | |
| NM_033629.4:c.599_601dup (TREX1) | NP_338599.1:p.Asp200_Val201insAsp | |
| NM_007248.4:c.569_571dup (TREX1) | NP_009179.2:p.Asp190_Val191insAsp | |
| NM_033629.5:c.599_601dup (TREX1) | NP_338599.1:p.Asp200_Val201insAsp | |
| NR_153405.1:n.3908_3910dup | ||
| NM_033629.6:c.599_601dup (TREX1) MANE Select | NP_338599.1:p.Asp200_Val201insAsp | |
| NM_130384.3:c.*1700_*1702dup (ATRIP) MANE Select | NP_569055.1:n.*1700_*1702dup | |
| NM_001271023.2:c.*1700_*1702dup (ATRIP) | NP_001257952.1:n.*1700_*1702dup | |
| NM_007248.5:c.569_571dup (TREX1) | NP_009179.2:p.Asp190_Val191insAsp | |
| NM_032166.4:c.*1700_*1702dup (ATRIP) | NP_115542.2:n.*1700_*1702dup | |
| NM_001271022.2:c.*1700_*1702dup (ATRIP) | NP_001257951.1:n.*1700_*1702dup |