Canonical Allele Identifier: CA345482

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467264_48467317dup , CM000665.2:g.48467264_48467317dup GRCh38
NC_000003.11:g.48508663_48508716dup , CM000665.1:g.48508663_48508716dup GRCh37
NC_000003.10:g.48483667_48483720dup NCBI36
NG_009820.1:g.6435_6488dup
NG_033100.1:g.38546_38599dup
NG_041782.1:g.25555_25608dup
NG_009820.2:g.6435_6488dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.*1710_*1763dup (ATRIP) MANE Select ENSP00000323099.3:n.*1710_*1763dup
ENST00000492235.2:c.192_245dup (TREX1) ENSP00000494511.1:p.Ala82_His83insLeuLeuSerIleCysGlnTrpArgPro...
ENST00000625293.3:c.609_662dup (TREX1) MANE Select ENSP00000486676.2:p.Ala221_His222insLeuLeuSerIleCysGlnTrpArgP...
ENST00000634384.2:c.3204_3257dup (ATRIP)
ENST00000635452.2:c.192_245dup (TREX1) ENSP00000492023.2:p.Ala82_His83insLeuLeuSerIleCysGlnTrpArgPro...
ENST00000296443.11:c.609_662dup ENSP00000296443.11:p.Ala221_His222insLeuLeuSerIleCysGlnTrpArg...
ENST00000433541.1:c.192_245dup (TREX1) ENSP00000412404.1:p.Ala82_His83insLeuLeuSerIleCysGlnTrpArgPro...
ENST00000444177.1:c.579_632dup (TREX1) ENSP00000415972.1:p.Ala211_His212insLeuLeuSerIleCysGlnTrpArgP...
ENST00000456089.1:c.192_245dup (TREX1) ENSP00000411331.1:p.Ala82_His83insLeuLeuSerIleCysGlnTrpArgPro...
ENST00000492235.1:n.527_580dup (TREX1)
ENST00000625293.1:c.774_827dup (TREX1) ENSP00000486676.1:p.Ala276_His277insLeuLeuSerIleCysGlnTrpArgP...
ENST00000629913.1:c.609_662dup (TREX1) ENSP00000486444.1:p.Ala221_His222insLeuLeuSerIleCysGlnTrpArgP...
ENST00000634384.1:c.*3429_*3482dup ENSP00000489041.1:n.*3429_*3482dup
ENST00000635452.1:n.1816_1869dup
ENST00000635464.1:c.3562_3615dup ENSP00000489199.1:n.3562_3615dup
NM_007248.3:c.579_632dup (TREX1) NP_009179.2:p.Ala211_His212insLeuLeuSerIleCysGlnTrpArgProGlnA...
NM_016381.5:c.774_827dup (TREX1) NP_057465.1:p.Ala276_His277insLeuLeuSerIleCysGlnTrpArgProGlnA...
NM_033629.4:c.609_662dup (TREX1) NP_338599.1:p.Ala221_His222insLeuLeuSerIleCysGlnTrpArgProGlnA...
NM_007248.4:c.579_632dup (TREX1) NP_009179.2:p.Ala211_His212insLeuLeuSerIleCysGlnTrpArgProGlnA...
NM_033629.5:c.609_662dup (TREX1) NP_338599.1:p.Ala221_His222insLeuLeuSerIleCysGlnTrpArgProGlnA...
NR_153405.1:n.3918_3971dup
NM_033629.6:c.609_662dup (TREX1) MANE Select NP_338599.1:p.Ala221_His222insLeuLeuSerIleCysGlnTrpArgProGlnA...
NM_130384.3:c.*1710_*1763dup (ATRIP) MANE Select NP_569055.1:n.*1710_*1763dup
NM_001271023.2:c.*1710_*1763dup (ATRIP) NP_001257952.1:n.*1710_*1763dup
NM_007248.5:c.579_632dup (TREX1) NP_009179.2:p.Ala211_His212insLeuLeuSerIleCysGlnTrpArgProGlnA...
NM_032166.4:c.*1710_*1763dup (ATRIP) NP_115542.2:n.*1710_*1763dup
NM_001271022.2:c.*1710_*1763dup (ATRIP) NP_001257951.1:n.*1710_*1763dup