MyVariant.info:
GRCh38
chr3:g.48466867_48466868del
GRCh38
chr3:g.48466861_48466862del
GRCh37
chr3:g.48508266_48508267del
GRCh37
chr3:g.48508260_48508261del
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48466867_48466868del , CM000665.2:g.48466867_48466868del | GRCh38 |
| NC_000003.11:g.48508266_48508267del , CM000665.1:g.48508266_48508267del | GRCh37 |
| NC_000003.10:g.48483270_48483271del | NCBI36 |
| NG_009820.1:g.6038_6039del | |
| NG_033100.1:g.38999_39000del | |
| NG_041782.1:g.25158_25159del | |
| NG_009820.2:g.6038_6039del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320211.10:c.*1313_*1314del (ATRIP) MANE Select | ENSP00000323099.3:n.*1313_*1314del | |
| ENST00000492235.2:c.-206_-205del (TREX1) | ENSP00000494511.1:n.-206_-205del | |
| ENST00000625293.3:c.212_213del (TREX1) MANE Select | ENSP00000486676.2:p.Val71GlyfsTer30 | |
| ENST00000634384.2:c.2807_2808del (ATRIP) | ||
| ENST00000635452.2:c.-206_-205del (TREX1) | ENSP00000492023.2:n.-206_-205del | |
| ENST00000296443.11:c.212_213del | ENSP00000296443.11:p.Val71GlyfsTer30 | |
| ENST00000433541.1:c.-206_-205del (TREX1) | ENSP00000412404.1:n.-206_-205del | |
| ENST00000444177.1:c.182_183del (TREX1) | ENSP00000415972.1:p.Val61GlyfsTer30 | |
| ENST00000456089.1:c.-8-198_-8-197del (TREX1) | ENSP00000411331.1:n.-8-198_-8-197del | |
| ENST00000492235.1:n.130_131del (TREX1) | ||
| ENST00000625293.1:c.377_378del (TREX1) | ENSP00000486676.1:p.Val126GlyfsTer30 | |
| ENST00000629913.1:c.212_213del (TREX1) | ENSP00000486444.1:p.Val71GlyfsTer30 | |
| ENST00000634384.1:c.*3032_*3033del | ENSP00000489041.1:n.*3032_*3033del | |
| ENST00000635452.1:n.1419_1420del | ||
| ENST00000635464.1:c.3165_3166del | ENSP00000489199.1:n.3165_3166del | |
| NM_007248.3:c.182_183del (TREX1) | NP_009179.2:p.Val61GlyfsTer30 | |
| NM_016381.5:c.377_378del (TREX1) | NP_057465.1:p.Val126GlyfsTer30 | |
| NM_033629.4:c.212_213del (TREX1) | NP_338599.1:p.Val71GlyfsTer30 | |
| NM_007248.4:c.182_183del (TREX1) | NP_009179.2:p.Val61GlyfsTer30 | |
| NM_033629.5:c.212_213del (TREX1) | NP_338599.1:p.Val71GlyfsTer30 | |
| NR_153405.1:n.3521_3522del | ||
| NM_033629.6:c.212_213del (TREX1) MANE Select | NP_338599.1:p.Val71GlyfsTer30 | |
| NM_130384.3:c.*1313_*1314del (ATRIP) MANE Select | NP_569055.1:n.*1313_*1314del | |
| NM_001271023.2:c.*1313_*1314del (ATRIP) | NP_001257952.1:n.*1313_*1314del | |
| NM_007248.5:c.182_183del (TREX1) | NP_009179.2:p.Val61GlyfsTer30 | |
| NM_032166.4:c.*1313_*1314del (ATRIP) | NP_115542.2:n.*1313_*1314del | |
| NM_001271022.2:c.*1313_*1314del (ATRIP) | NP_001257951.1:n.*1313_*1314del |