Canonical Allele Identifier: CA2376545

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48466678dup , CM000665.2:g.48466678dup GRCh38
NC_000003.11:g.48508077dup , CM000665.1:g.48508077dup GRCh37
NC_000003.10:g.48483081dup NCBI36
NG_009820.1:g.5849dup
NG_033100.1:g.39187dup
NG_041782.1:g.24969dup
NG_009820.2:g.5849dup

Transcript Alleles

HGVS Amino-acid Change
NM_033629.6:c.23dup (TREX1) MANE Select NP_338599.1:p.Pro10AlafsTer?
NM_130384.3:c.*1124dup (ATRIP) MANE Select NP_569055.1:n.*1124dup
ENST00000320211.10:c.*1124dup (ATRIP) MANE Select ENSP00000323099.3:n.*1124dup
ENST00000625293.3:c.23dup (TREX1) MANE Select ENSP00000486676.2:p.Pro10AlafsTer?
NM_001271022.2:c.*1124dup (ATRIP) NP_001257951.1:n.*1124dup
NM_001271023.2:c.*1124dup (ATRIP) NP_001257952.1:n.*1124dup
NM_007248.3:c.-8dup (TREX1) NP_009179.2:n.-8dup
NM_007248.4:c.-8dup (TREX1) NP_009179.2:n.-8dup
NM_007248.5:c.-8dup (TREX1) NP_009179.2:n.-8dup
NM_016381.5:c.188dup (TREX1) NP_057465.1:p.Pro65AlafsTer?
NM_032166.4:c.*1124dup (ATRIP) NP_115542.2:n.*1124dup
NM_033629.4:c.23dup (TREX1) NP_338599.1:p.Pro10AlafsTer?
NM_033629.5:c.23dup (TREX1) NP_338599.1:p.Pro10AlafsTer?
NR_153405.1:n.3332dup
ENST00000296443.11:c.23dup ENSP00000296443.11:p.Pro10AlafsTer?
ENST00000433541.1:c.-334+37dup (TREX1) ENSP00000412404.1:n.-334+37dup
ENST00000444177.1:c.-8dup (TREX1) ENSP00000415972.1:n.-8dup
ENST00000456089.1:c.-9+369dup (TREX1) ENSP00000411331.1:n.-9+369dup
ENST00000492235.1:n.41-100dup (TREX1)
ENST00000492235.2:c.-295-100dup (TREX1) ENSP00000494511.1:n.-295-100dup
ENST00000625293.1:c.188dup (TREX1) ENSP00000486676.1:p.Pro65AlafsTer?
ENST00000629913.1:c.23dup (TREX1) ENSP00000486444.1:p.Pro10AlafsTer?
ENST00000634384.1:c.*2843dup ENSP00000489041.1:n.*2843dup
ENST00000634384.2:c.2618dup (ATRIP)
ENST00000635452.1:n.1230dup
ENST00000635452.2:c.-333-62dup (TREX1) ENSP00000492023.2:n.-333-62dup
ENST00000635464.1:c.2976dup ENSP00000489199.1:n.2976dup