Canonical Allele Identifier: CA916887662

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467523_48467540dup , CM000665.2:g.48467523_48467540dup GRCh38
NC_000003.11:g.48508922_48508939dup , CM000665.1:g.48508922_48508939dup GRCh37
NC_000003.10:g.48483926_48483943dup NCBI36
NG_009820.1:g.6694_6711dup
NG_033100.1:g.38330_38347dup
NG_041782.1:g.25814_25831dup
NG_009820.2:g.6694_6711dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.*1969_*1986dup (ATRIP) MANE Select ENSP00000323099.3:n.*1969_*1986dup
ENST00000492235.2:c.451_468dup (TREX1) ENSP00000494511.1:p.Ala156_Ile157insProLeuGlyLeuLeuAla
ENST00000625293.3:c.868_885dup (TREX1) MANE Select ENSP00000486676.2:p.Ala295_Ile296insProLeuGlyLeuLeuAla
ENST00000634384.2:c.3463_3480dup (ATRIP)
ENST00000635452.2:c.451_468dup (TREX1) ENSP00000492023.2:p.Ala156_Ile157insProLeuGlyLeuLeuAla
ENST00000296443.11:c.868_885dup ENSP00000296443.11:p.Ala295_Ile296insProLeuGlyLeuLeuAla
ENST00000433541.1:c.451_468dup (TREX1) ENSP00000412404.1:p.Ala156_Ile157insProLeuGlyLeuLeuAla
ENST00000444177.1:c.838_855dup (TREX1) ENSP00000415972.1:p.Ala285_Ile286insProLeuGlyLeuLeuAla
ENST00000456089.1:c.451_468dup (TREX1) ENSP00000411331.1:p.Ala156_Ile157insProLeuGlyLeuLeuAla
ENST00000625293.1:c.1033_1050dup (TREX1) ENSP00000486676.1:p.Ala350_Ile351insProLeuGlyLeuLeuAla
ENST00000629913.1:c.868_885dup (TREX1) ENSP00000486444.1:p.Ala295_Ile296insProLeuGlyLeuLeuAla
ENST00000634384.1:c.*3688_*3705dup ENSP00000489041.1:n.*3688_*3705dup
ENST00000635452.1:n.2075_2092dup
ENST00000635464.1:c.3821_3838dup ENSP00000489199.1:n.3821_3838dup
NM_007248.3:c.838_855dup (TREX1) NP_009179.2:p.Ala285_Ile286insProLeuGlyLeuLeuAla
NM_016381.5:c.1033_1050dup (TREX1) NP_057465.1:p.Ala350_Ile351insProLeuGlyLeuLeuAla
NM_033629.4:c.868_885dup (TREX1) NP_338599.1:p.Ala295_Ile296insProLeuGlyLeuLeuAla
NM_007248.4:c.838_855dup (TREX1) NP_009179.2:p.Ala285_Ile286insProLeuGlyLeuLeuAla
NM_033629.5:c.868_885dup (TREX1) NP_338599.1:p.Ala295_Ile296insProLeuGlyLeuLeuAla
NR_153405.1:n.4177_4194dup
NM_033629.6:c.868_885dup (TREX1) MANE Select NP_338599.1:p.Ala295_Ile296insProLeuGlyLeuLeuAla
NM_130384.3:c.*1969_*1986dup (ATRIP) MANE Select NP_569055.1:n.*1969_*1986dup
NM_001271023.2:c.*1969_*1986dup (ATRIP) NP_001257952.1:n.*1969_*1986dup
NM_007248.5:c.838_855dup (TREX1) NP_009179.2:p.Ala285_Ile286insProLeuGlyLeuLeuAla
NM_032166.4:c.*1969_*1986dup (ATRIP) NP_115542.2:n.*1969_*1986dup
NM_001271022.2:c.*1969_*1986dup (ATRIP) NP_001257951.1:n.*1969_*1986dup