Canonical Allele Identifier: CA543045048

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48466891_48466898dup , CM000665.2:g.48466891_48466898dup GRCh38
NC_000003.11:g.48508290_48508297dup , CM000665.1:g.48508290_48508297dup GRCh37
NC_000003.10:g.48483294_48483301dup NCBI36
NG_009820.1:g.6062_6069dup
NG_033100.1:g.38972_38979dup
NG_041782.1:g.25182_25189dup
NG_009820.2:g.6062_6069dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.*1337_*1344dup (ATRIP) MANE Select ENSP00000323099.3:n.*1337_*1344dup
ENST00000492235.2:c.-182_-175dup (TREX1) ENSP00000494511.1:n.-182_-175dup
ENST00000625293.3:c.236_243dup (TREX1) MANE Select ENSP00000486676.2:p.Ser82LeufsTer9
ENST00000634384.2:c.2831_2838dup (ATRIP)
ENST00000635452.2:c.-182_-175dup (TREX1) ENSP00000492023.2:n.-182_-175dup
ENST00000296443.11:c.236_243dup ENSP00000296443.11:p.Ser82LeufsTer9
ENST00000433541.1:c.-182_-175dup (TREX1) ENSP00000412404.1:n.-182_-175dup
ENST00000444177.1:c.206_213dup (TREX1) ENSP00000415972.1:p.Ser72LeufsTer9
ENST00000456089.1:c.-8-174_-8-167dup (TREX1) ENSP00000411331.1:n.-8-174_-8-167dup
ENST00000492235.1:n.154_161dup (TREX1)
ENST00000625293.1:c.401_408dup (TREX1) ENSP00000486676.1:p.Ser137LeufsTer9
ENST00000629913.1:c.236_243dup (TREX1) ENSP00000486444.1:p.Ser82LeufsTer9
ENST00000634384.1:c.*3056_*3063dup ENSP00000489041.1:n.*3056_*3063dup
ENST00000635452.1:n.1443_1450dup
ENST00000635464.1:c.3189_3196dup ENSP00000489199.1:n.3189_3196dup
NM_007248.3:c.206_213dup (TREX1) NP_009179.2:p.Ser72LeufsTer9
NM_016381.5:c.401_408dup (TREX1) NP_057465.1:p.Ser137LeufsTer9
NM_033629.4:c.236_243dup (TREX1) NP_338599.1:p.Ser82LeufsTer9
NM_007248.4:c.206_213dup (TREX1) NP_009179.2:p.Ser72LeufsTer9
NM_033629.5:c.236_243dup (TREX1) NP_338599.1:p.Ser82LeufsTer9
NR_153405.1:n.3545_3552dup
NM_033629.6:c.236_243dup (TREX1) MANE Select NP_338599.1:p.Ser82LeufsTer9
NM_130384.3:c.*1337_*1344dup (ATRIP) MANE Select NP_569055.1:n.*1337_*1344dup
NM_001271023.2:c.*1337_*1344dup (ATRIP) NP_001257952.1:n.*1337_*1344dup
NM_007248.5:c.206_213dup (TREX1) NP_009179.2:p.Ser72LeufsTer9
NM_032166.4:c.*1337_*1344dup (ATRIP) NP_115542.2:n.*1337_*1344dup
NM_001271022.2:c.*1337_*1344dup (ATRIP) NP_001257951.1:n.*1337_*1344dup