MyVariant.info:
GRCh38
chr3:g.48467523_48467540del
GRCh38
chr3:g.48467514_48467531del
GRCh37
chr3:g.48508922_48508939del
GRCh37
chr3:g.48508913_48508930del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00018984 (SAS)
Genomes Max Group AF
0.00002261 (AMR)
Exomes Max Group AF
0.00020135 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48467523_48467540del , CM000665.2:g.48467523_48467540del | GRCh38 |
| NC_000003.11:g.48508922_48508939del , CM000665.1:g.48508922_48508939del | GRCh37 |
| NC_000003.10:g.48483926_48483943del | NCBI36 |
| NG_009820.1:g.6694_6711del | |
| NG_033100.1:g.38330_38347del | |
| NG_041782.1:g.25814_25831del | |
| NG_009820.2:g.6694_6711del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320211.10:c.*1969_*1986del (ATRIP) MANE Select | ENSP00000323099.3:n.*1969_*1986del | |
| ENST00000492235.2:c.451_468del (TREX1) | ENSP00000494511.1:p.Pro151_Ala156del | |
| ENST00000625293.3:c.868_885del (TREX1) MANE Select | ENSP00000486676.2:p.Pro290_Ala295del | |
| ENST00000634384.2:c.3463_3480del (ATRIP) | ||
| ENST00000635452.2:c.451_468del (TREX1) | ENSP00000492023.2:p.Pro151_Ala156del | |
| ENST00000296443.11:c.868_885del | ENSP00000296443.11:p.Pro290_Ala295del | |
| ENST00000433541.1:c.451_468del (TREX1) | ENSP00000412404.1:p.Pro151_Ala156del | |
| ENST00000444177.1:c.838_855del (TREX1) | ENSP00000415972.1:p.Pro280_Ala285del | |
| ENST00000456089.1:c.451_468del (TREX1) | ENSP00000411331.1:p.Pro151_Ala156del | |
| ENST00000625293.1:c.1033_1050del (TREX1) | ENSP00000486676.1:p.Pro345_Ala350del | |
| ENST00000629913.1:c.868_885del (TREX1) | ENSP00000486444.1:p.Pro290_Ala295del | |
| ENST00000634384.1:c.*3688_*3705del | ENSP00000489041.1:n.*3688_*3705del | |
| ENST00000635452.1:n.2075_2092del | ||
| ENST00000635464.1:c.3821_3838del | ENSP00000489199.1:n.3821_3838del | |
| NM_007248.3:c.838_855del (TREX1) | NP_009179.2:p.Pro280_Ala285del | |
| NM_016381.5:c.1033_1050del (TREX1) | NP_057465.1:p.Pro345_Ala350del | |
| NM_033629.4:c.868_885del (TREX1) | NP_338599.1:p.Pro290_Ala295del | |
| NM_007248.4:c.838_855del (TREX1) | NP_009179.2:p.Pro280_Ala285del | |
| NM_033629.5:c.868_885del (TREX1) | NP_338599.1:p.Pro290_Ala295del | |
| NR_153405.1:n.4177_4194del | ||
| NM_033629.6:c.868_885del (TREX1) MANE Select | NP_338599.1:p.Pro290_Ala295del | |
| NM_130384.3:c.*1969_*1986del (ATRIP) MANE Select | NP_569055.1:n.*1969_*1986del | |
| NM_001271023.2:c.*1969_*1986del (ATRIP) | NP_001257952.1:n.*1969_*1986del | |
| NM_007248.5:c.838_855del (TREX1) | NP_009179.2:p.Pro280_Ala285del | |
| NM_032166.4:c.*1969_*1986del (ATRIP) | NP_115542.2:n.*1969_*1986del | |
| NM_001271022.2:c.*1969_*1986del (ATRIP) | NP_001257951.1:n.*1969_*1986del |