Canonical Allele Identifier: CA345475

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467021_48467023dup , CM000665.2:g.48467021_48467023dup GRCh38
NC_000003.11:g.48508420_48508422dup , CM000665.1:g.48508420_48508422dup GRCh37
NC_000003.10:g.48483424_48483426dup NCBI36
NG_009820.1:g.6192_6194dup
NG_033100.1:g.38838_38840dup
NG_041782.1:g.25312_25314dup
NG_009820.2:g.6192_6194dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.*1467_*1469dup (ATRIP) MANE Select ENSP00000323099.3:n.*1467_*1469dup
ENST00000492235.2:c.-52_-50dup (TREX1) ENSP00000494511.1:n.-52_-50dup
ENST00000625293.3:c.366_368dup (TREX1) MANE Select ENSP00000486676.2:p.Ala123_His124insAla
ENST00000634384.2:c.2961_2963dup (ATRIP)
ENST00000635452.2:c.-52_-50dup (TREX1) ENSP00000492023.2:n.-52_-50dup
ENST00000296443.11:c.366_368dup ENSP00000296443.11:p.Ala123_His124insAla
ENST00000433541.1:c.-52_-50dup (TREX1) ENSP00000412404.1:n.-52_-50dup
ENST00000444177.1:c.336_338dup (TREX1) ENSP00000415972.1:p.Ala113_His114insAla
ENST00000456089.1:c.-8-44_-8-42dup (TREX1) ENSP00000411331.1:n.-8-44_-8-42dup
ENST00000492235.1:n.284_286dup (TREX1)
ENST00000625293.1:c.531_533dup (TREX1) ENSP00000486676.1:p.Ala178_His179insAla
ENST00000629913.1:c.366_368dup (TREX1) ENSP00000486444.1:p.Ala123_His124insAla
ENST00000634384.1:c.*3186_*3188dup ENSP00000489041.1:n.*3186_*3188dup
ENST00000635452.1:n.1573_1575dup
ENST00000635464.1:c.3319_3321dup ENSP00000489199.1:n.3319_3321dup
NM_007248.3:c.336_338dup (TREX1) NP_009179.2:p.Ala113_His114insAla
NM_016381.5:c.531_533dup (TREX1) NP_057465.1:p.Ala178_His179insAla
NM_033629.4:c.366_368dup (TREX1) NP_338599.1:p.Ala123_His124insAla
NM_007248.4:c.336_338dup (TREX1) NP_009179.2:p.Ala113_His114insAla
NM_033629.5:c.366_368dup (TREX1) NP_338599.1:p.Ala123_His124insAla
NR_153405.1:n.3675_3677dup
NM_033629.6:c.366_368dup (TREX1) MANE Select NP_338599.1:p.Ala123_His124insAla
NM_130384.3:c.*1467_*1469dup (ATRIP) MANE Select NP_569055.1:n.*1467_*1469dup
NM_001271023.2:c.*1467_*1469dup (ATRIP) NP_001257952.1:n.*1467_*1469dup
NM_007248.5:c.336_338dup (TREX1) NP_009179.2:p.Ala113_His114insAla
NM_032166.4:c.*1467_*1469dup (ATRIP) NP_115542.2:n.*1467_*1469dup
NM_001271022.2:c.*1467_*1469dup (ATRIP) NP_001257951.1:n.*1467_*1469dup