Canonical Allele Identifier: CA1139658062

Linked Data

ClinVar Variation Id: 983045
ClinVar RCV Id: RCV001262861
dbSNP Id: rs748914604

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48466798_48466799del , CM000665.2:g.48466798_48466799del GRCh38
NC_000003.11:g.48508197_48508198del , CM000665.1:g.48508197_48508198del GRCh37
NC_000003.10:g.48483201_48483202del NCBI36
NG_009820.1:g.5969_5970del
NG_033100.1:g.39067_39068del
NG_041782.1:g.25089_25090del
NG_009820.2:g.5969_5970del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.*1244_*1245del (ATRIP) MANE Select ENSP00000323099.3:n.*1244_*1245del
ENST00000492235.2:c.-275_-274del (TREX1) ENSP00000494511.1:n.-275_-274del
ENST00000625293.3:c.143_144del (TREX1) MANE Select ENSP00000486676.2:p.Pro48HisfsTer?
ENST00000634384.2:c.2738_2739del (ATRIP)
ENST00000635452.2:c.-275_-274del (TREX1) ENSP00000492023.2:n.-275_-274del
ENST00000296443.11:c.143_144del ENSP00000296443.11:p.Pro48HisfsTer?
ENST00000433541.1:c.-275_-274del (TREX1) ENSP00000412404.1:n.-275_-274del
ENST00000444177.1:c.113_114del (TREX1) ENSP00000415972.1:p.Pro38HisfsTer?
ENST00000456089.1:c.-8-267_-8-266del (TREX1) ENSP00000411331.1:n.-8-267_-8-266del
ENST00000492235.1:n.61_62del (TREX1)
ENST00000625293.1:c.308_309del (TREX1) ENSP00000486676.1:p.Pro103HisfsTer?
ENST00000629913.1:c.143_144del (TREX1) ENSP00000486444.1:p.Pro48HisfsTer?
ENST00000634384.1:c.*2963_*2964del ENSP00000489041.1:n.*2963_*2964del
ENST00000635452.1:n.1350_1351del
ENST00000635464.1:c.3096_3097del ENSP00000489199.1:n.3096_3097del
NM_007248.3:c.113_114del (TREX1) NP_009179.2:p.Pro38HisfsTer?
NM_016381.5:c.308_309del (TREX1) NP_057465.1:p.Pro103HisfsTer?
NM_033629.4:c.143_144del (TREX1) NP_338599.1:p.Pro48HisfsTer?
NM_007248.4:c.113_114del (TREX1) NP_009179.2:p.Pro38HisfsTer?
NM_033629.5:c.143_144del (TREX1) NP_338599.1:p.Pro48HisfsTer?
NR_153405.1:n.3452_3453del
NM_033629.6:c.143_144del (TREX1) MANE Select NP_338599.1:p.Pro48HisfsTer?
NM_130384.3:c.*1244_*1245del (ATRIP) MANE Select NP_569055.1:n.*1244_*1245del
NM_001271023.2:c.*1244_*1245del (ATRIP) NP_001257952.1:n.*1244_*1245del
NM_007248.5:c.113_114del (TREX1) NP_009179.2:p.Pro38HisfsTer?
NM_032166.4:c.*1244_*1245del (ATRIP) NP_115542.2:n.*1244_*1245del
NM_001271022.2:c.*1244_*1245del (ATRIP) NP_001257951.1:n.*1244_*1245del