Canonical Allele Identifier: CA1363031461

Linked Data

dbSNP Id: rs2040395106

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467626_48467627dup , CM000665.2:g.48467626_48467627dup GRCh38
NC_000003.11:g.48509025_48509026dup , CM000665.1:g.48509025_48509026dup GRCh37
NC_000003.10:g.48484029_48484030dup NCBI36
NG_009820.1:g.6797_6798dup
NG_033100.1:g.38235_38236dup
NG_041782.1:g.25917_25918dup
NG_009820.2:g.6797_6798dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.*2072_*2073dup (ATRIP) MANE Select ENSP00000323099.3:n.*2072_*2073dup
ENST00000492235.2:c.*26_*27dup (TREX1) ENSP00000494511.1:n.*26_*27dup
ENST00000625293.3:c.*26_*27dup (TREX1) MANE Select ENSP00000486676.2:n.*26_*27dup
ENST00000634384.2:c.3566_3567dup (ATRIP)
ENST00000635452.2:c.*26_*27dup (TREX1) ENSP00000492023.2:n.*26_*27dup
ENST00000296443.11:c.*26_*27dup ENSP00000296443.11:n.*26_*27dup
ENST00000433541.1:c.*26_*27dup (TREX1) ENSP00000412404.1:n.*26_*27dup
ENST00000444177.1:c.*26_*27dup (TREX1) ENSP00000415972.1:n.*26_*27dup
ENST00000456089.1:c.*26_*27dup (TREX1) ENSP00000411331.1:n.*26_*27dup
ENST00000625293.1:c.*26_*27dup (TREX1) ENSP00000486676.1:n.*26_*27dup
ENST00000634384.1:c.*3791_*3792dup ENSP00000489041.1:n.*3791_*3792dup
ENST00000635452.1:n.2178_2179dup
ENST00000635464.1:c.3924_3925dup ENSP00000489199.1:n.3924_3925dup
NM_007248.3:c.*26_*27dup (TREX1) NP_009179.2:n.*26_*27dup
NM_016381.5:c.*26_*27dup (TREX1) NP_057465.1:n.*26_*27dup
NM_033629.4:c.*26_*27dup (TREX1) NP_338599.1:n.*26_*27dup
NM_007248.4:c.*26_*27dup (TREX1) NP_009179.2:n.*26_*27dup
NM_033629.5:c.*26_*27dup (TREX1) NP_338599.1:n.*26_*27dup
NR_153405.1:n.4280_4281dup
NM_033629.6:c.*26_*27dup (TREX1) MANE Select NP_338599.1:n.*26_*27dup
NM_130384.3:c.*2072_*2073dup (ATRIP) MANE Select NP_569055.1:n.*2072_*2073dup
NM_001271023.2:c.*2072_*2073dup (ATRIP) NP_001257952.1:n.*2072_*2073dup
NM_007248.5:c.*26_*27dup (TREX1) NP_009179.2:n.*26_*27dup
NM_032166.4:c.*2072_*2073dup (ATRIP) NP_115542.2:n.*2072_*2073dup
NM_001271022.2:c.*2072_*2073dup (ATRIP) NP_001257951.1:n.*2072_*2073dup