Canonical Allele Identifier: CA1363031402

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467513_48467530del , CM000665.2:g.48467513_48467530del GRCh38
NC_000003.11:g.48508912_48508929del , CM000665.1:g.48508912_48508929del GRCh37
NC_000003.10:g.48483916_48483933del NCBI36
NG_009820.1:g.6684_6701del
NG_033100.1:g.38334_38351del
NG_041782.1:g.25804_25821del
NG_009820.2:g.6684_6701del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.*1959_*1976del (ATRIP) MANE Select ENSP00000323099.3:n.*1959_*1976del
ENST00000492235.2:c.441_458del (TREX1) ENSP00000494511.1:p.Leu148_Gly153del
ENST00000625293.3:c.858_875del (TREX1) MANE Select ENSP00000486676.2:p.Leu287_Gly292del
ENST00000634384.2:c.3453_3470del (ATRIP)
ENST00000635452.2:c.441_458del (TREX1) ENSP00000492023.2:p.Leu148_Gly153del
ENST00000296443.11:c.858_875del ENSP00000296443.11:p.Leu287_Gly292del
ENST00000433541.1:c.441_458del (TREX1) ENSP00000412404.1:p.Leu148_Gly153del
ENST00000444177.1:c.828_845del (TREX1) ENSP00000415972.1:p.Leu277_Gly282del
ENST00000456089.1:c.441_458del (TREX1) ENSP00000411331.1:p.Leu148_Gly153del
ENST00000625293.1:c.1023_1040del (TREX1) ENSP00000486676.1:p.Leu342_Gly347del
ENST00000629913.1:c.858_875del (TREX1) ENSP00000486444.1:p.Leu287_Gly292del
ENST00000634384.1:c.*3678_*3695del ENSP00000489041.1:n.*3678_*3695del
ENST00000635452.1:n.2065_2082del
ENST00000635464.1:c.3811_3828del ENSP00000489199.1:n.3811_3828del
NM_007248.3:c.828_845del (TREX1) NP_009179.2:p.Leu277_Gly282del
NM_016381.5:c.1023_1040del (TREX1) NP_057465.1:p.Leu342_Gly347del
NM_033629.4:c.858_875del (TREX1) NP_338599.1:p.Leu287_Gly292del
NM_007248.4:c.828_845del (TREX1) NP_009179.2:p.Leu277_Gly282del
NM_033629.5:c.858_875del (TREX1) NP_338599.1:p.Leu287_Gly292del
NR_153405.1:n.4167_4184del
NM_033629.6:c.858_875del (TREX1) MANE Select NP_338599.1:p.Leu287_Gly292del
NM_130384.3:c.*1959_*1976del (ATRIP) MANE Select NP_569055.1:n.*1959_*1976del
NM_001271023.2:c.*1959_*1976del (ATRIP) NP_001257952.1:n.*1959_*1976del
NM_007248.5:c.828_845del (TREX1) NP_009179.2:p.Leu277_Gly282del
NM_032166.4:c.*1959_*1976del (ATRIP) NP_115542.2:n.*1959_*1976del
NM_001271022.2:c.*1959_*1976del (ATRIP) NP_001257951.1:n.*1959_*1976del