Canonical Allele Identifier: CA345479

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467052del , CM000665.2:g.48467052del GRCh38
NC_000003.11:g.48508451del , CM000665.1:g.48508451del GRCh37
NC_000003.10:g.48483455del NCBI36
NG_009820.1:g.6223del
NG_033100.1:g.38813del
NG_041782.1:g.25343del
NG_009820.2:g.6223del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.*1498del (ATRIP) MANE Select ENSP00000323099.3:n.*1498del
ENST00000492235.2:c.-21del (TREX1) ENSP00000494511.1:n.-21del
ENST00000625293.3:c.397del (TREX1) MANE Select ENSP00000486676.2:p.Leu133CysfsTer27
ENST00000634384.2:c.2992del (ATRIP)
ENST00000635452.2:c.-21del (TREX1) ENSP00000492023.2:n.-21del
ENST00000296443.11:c.397del ENSP00000296443.11:p.Leu133CysfsTer27
ENST00000433541.1:c.-21del (TREX1) ENSP00000412404.1:n.-21del
ENST00000444177.1:c.367del (TREX1) ENSP00000415972.1:p.Leu123CysfsTer27
ENST00000456089.1:c.-8-13del (TREX1) ENSP00000411331.1:n.-8-13del
ENST00000492235.1:n.315del (TREX1)
ENST00000625293.1:c.562del (TREX1) ENSP00000486676.1:p.Leu188CysfsTer27
ENST00000629913.1:c.397del (TREX1) ENSP00000486444.1:p.Leu133CysfsTer27
ENST00000634384.1:c.*3217del ENSP00000489041.1:n.*3217del
ENST00000635452.1:n.1604del
ENST00000635464.1:c.3350del ENSP00000489199.1:n.3350del
NM_007248.3:c.367del (TREX1) NP_009179.2:p.Leu123CysfsTer27
NM_016381.5:c.562del (TREX1) NP_057465.1:p.Leu188CysfsTer27
NM_033629.4:c.397del (TREX1) NP_338599.1:p.Leu133CysfsTer27
NM_007248.4:c.367del (TREX1) NP_009179.2:p.Leu123CysfsTer27
NM_033629.5:c.397del (TREX1) NP_338599.1:p.Leu133CysfsTer27
NR_153405.1:n.3706del
NM_033629.6:c.397del (TREX1) MANE Select NP_338599.1:p.Leu133CysfsTer27
NM_130384.3:c.*1498del (ATRIP) MANE Select NP_569055.1:n.*1498del
NM_001271023.2:c.*1498del (ATRIP) NP_001257952.1:n.*1498del
NM_007248.5:c.367del (TREX1) NP_009179.2:p.Leu123CysfsTer27
NM_032166.4:c.*1498del (ATRIP) NP_115542.2:n.*1498del
NM_001271022.2:c.*1498del (ATRIP) NP_001257951.1:n.*1498del