Canonical Allele Identifier: CA2740094415
Community Standard Title: NM_033629.6(TREX1):c.366_367del (p.Ala123ThrfsTer4)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467021_48467022del , CM000665.2:g.48467021_48467022del GRCh38
NC_000003.11:g.48508420_48508421del , CM000665.1:g.48508420_48508421del GRCh37
NC_000003.10:g.48483424_48483425del NCBI36
NG_009820.1:g.6192_6193del
NG_033100.1:g.38839_38840del
NG_041782.1:g.25312_25313del
NG_009820.2:g.6192_6193del

Transcript Alleles

HGVS Amino-acid Change
NM_033629.6:c.366_367del (TREX1) MANE Select NP_338599.1:p.Ala123ThrfsTer4
NM_130384.3:c.*1467_*1468del (ATRIP) MANE Select NP_569055.1:n.*1467_*1468del
ENST00000320211.10:c.*1467_*1468del (ATRIP) MANE Select ENSP00000323099.3:n.*1467_*1468del
ENST00000625293.3:c.366_367del (TREX1) MANE Select ENSP00000486676.2:p.Ala123ThrfsTer4
NM_001271022.2:c.*1467_*1468del (ATRIP) NP_001257951.1:n.*1467_*1468del
NM_001271023.2:c.*1467_*1468del (ATRIP) NP_001257952.1:n.*1467_*1468del
NM_007248.3:c.336_337del (TREX1) NP_009179.2:p.Ala113ThrfsTer4
NM_007248.4:c.336_337del (TREX1) NP_009179.2:p.Ala113ThrfsTer4
NM_007248.5:c.336_337del (TREX1) NP_009179.2:p.Ala113ThrfsTer4
NM_016381.5:c.531_532del (TREX1) NP_057465.1:p.Ala178ThrfsTer4
NM_032166.4:c.*1467_*1468del (ATRIP) NP_115542.2:n.*1467_*1468del
NM_033629.4:c.366_367del (TREX1) NP_338599.1:p.Ala123ThrfsTer4
NM_033629.5:c.366_367del (TREX1) NP_338599.1:p.Ala123ThrfsTer4
NR_153405.1:n.3675_3676del
ENST00000296443.11:c.366_367del ENSP00000296443.11:p.Ala123ThrfsTer4
ENST00000433541.1:c.-52_-51del (TREX1) ENSP00000412404.1:n.-52_-51del
ENST00000444177.1:c.336_337del (TREX1) ENSP00000415972.1:p.Ala113ThrfsTer4
ENST00000456089.1:c.-8-44_-8-43del (TREX1) ENSP00000411331.1:n.-8-44_-8-43del
ENST00000492235.1:n.284_285del (TREX1)
ENST00000492235.2:c.-52_-51del (TREX1) ENSP00000494511.1:n.-52_-51del
ENST00000625293.1:c.531_532del (TREX1) ENSP00000486676.1:p.Ala178ThrfsTer4
ENST00000629913.1:c.366_367del (TREX1) ENSP00000486444.1:p.Ala123ThrfsTer4
ENST00000634384.1:c.*3186_*3187del ENSP00000489041.1:n.*3186_*3187del
ENST00000634384.2:c.2961_2962del (ATRIP)
ENST00000635452.1:n.1573_1574del
ENST00000635452.2:c.-52_-51del (TREX1) ENSP00000492023.2:n.-52_-51del
ENST00000635464.1:c.3319_3320del ENSP00000489199.1:n.3319_3320del