Canonical Allele Identifier: CA345478

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467048_48467063dup , CM000665.2:g.48467048_48467063dup GRCh38
NC_000003.11:g.48508447_48508462dup , CM000665.1:g.48508447_48508462dup GRCh37
NC_000003.10:g.48483451_48483466dup NCBI36
NG_009820.1:g.6219_6234dup
NG_033100.1:g.38798_38813dup
NG_041782.1:g.25339_25354dup
NG_009820.2:g.6219_6234dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.*1494_*1509dup (ATRIP) MANE Select ENSP00000323099.3:n.*1494_*1509dup
ENST00000492235.2:c.-25_-10dup (TREX1) ENSP00000494511.1:n.-25_-10dup
ENST00000625293.3:c.393_408dup (TREX1) MANE Select ENSP00000486676.2:p.Glu137ProfsTer24
ENST00000634384.2:c.2988_3003dup (ATRIP)
ENST00000635452.2:c.-25_-10dup (TREX1) ENSP00000492023.2:n.-25_-10dup
ENST00000296443.11:c.393_408dup ENSP00000296443.11:p.Glu137ProfsTer24
ENST00000433541.1:c.-25_-10dup (TREX1) ENSP00000412404.1:n.-25_-10dup
ENST00000444177.1:c.363_378dup (TREX1) ENSP00000415972.1:p.Glu127ProfsTer24
ENST00000456089.1:c.-8-17_-8-2dup (TREX1) ENSP00000411331.1:n.-8-17_-8-2dup
ENST00000492235.1:n.311_326dup (TREX1)
ENST00000625293.1:c.558_573dup (TREX1) ENSP00000486676.1:p.Glu192ProfsTer24
ENST00000629913.1:c.393_408dup (TREX1) ENSP00000486444.1:p.Glu137ProfsTer24
ENST00000634384.1:c.*3213_*3228dup ENSP00000489041.1:n.*3213_*3228dup
ENST00000635452.1:n.1600_1615dup
ENST00000635464.1:c.3346_3361dup ENSP00000489199.1:n.3346_3361dup
NM_007248.3:c.363_378dup (TREX1) NP_009179.2:p.Glu127ProfsTer24
NM_016381.5:c.558_573dup (TREX1) NP_057465.1:p.Glu192ProfsTer24
NM_033629.4:c.393_408dup (TREX1) NP_338599.1:p.Glu137ProfsTer24
NM_007248.4:c.363_378dup (TREX1) NP_009179.2:p.Glu127ProfsTer24
NM_033629.5:c.393_408dup (TREX1) NP_338599.1:p.Glu137ProfsTer24
NR_153405.1:n.3702_3717dup
NM_033629.6:c.393_408dup (TREX1) MANE Select NP_338599.1:p.Glu137ProfsTer24
NM_130384.3:c.*1494_*1509dup (ATRIP) MANE Select NP_569055.1:n.*1494_*1509dup
NM_001271023.2:c.*1494_*1509dup (ATRIP) NP_001257952.1:n.*1494_*1509dup
NM_007248.5:c.363_378dup (TREX1) NP_009179.2:p.Glu127ProfsTer24
NM_032166.4:c.*1494_*1509dup (ATRIP) NP_115542.2:n.*1494_*1509dup
NM_001271022.2:c.*1494_*1509dup (ATRIP) NP_001257951.1:n.*1494_*1509dup