Canonical Allele Identifier: CA2580070088

Gene: ATRIP TREX1

Linked Data

• ClinVar Variation Id: 2437260
• ClinVar RCV Id: RCV003142763

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467553_48467554dup , CM000665.2:g.48467553_48467554dup	GRCh38
NC_000003.11:g.48508952_48508953dup , CM000665.1:g.48508952_48508953dup	GRCh37
NC_000003.10:g.48483956_48483957dup	NCBI36
NG_009820.1:g.6724_6725dup
NG_033100.1:g.38307_38308dup
NG_041782.1:g.25844_25845dup
NG_009820.2:g.6724_6725dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1999_*2000dup (ATRIP) MANE Select	ENSP00000323099.3:n.*1999_*2000dup
ENST00000492235.2:c.481_482dup (TREX1)	ENSP00000494511.1:p.Val162GlnfsTer2
ENST00000625293.3:c.898_899dup (TREX1) MANE Select	ENSP00000486676.2:p.Val301GlnfsTer2
ENST00000634384.2:c.3493_3494dup (ATRIP)
ENST00000635452.2:c.481_482dup (TREX1)	ENSP00000492023.2:p.Val162GlnfsTer2
ENST00000296443.11:c.898_899dup	ENSP00000296443.11:p.Val301GlnfsTer2
ENST00000433541.1:c.481_482dup (TREX1)	ENSP00000412404.1:p.Val162GlnfsTer2
ENST00000444177.1:c.868_869dup (TREX1)	ENSP00000415972.1:p.Val291GlnfsTer2
ENST00000456089.1:c.481_482dup (TREX1)	ENSP00000411331.1:p.Val162GlnfsTer2
ENST00000625293.1:c.1063_1064dup (TREX1)	ENSP00000486676.1:p.Val356GlnfsTer2
ENST00000629913.1:c.898_899dup (TREX1)	ENSP00000486444.1:p.Val301GlnfsTer2
ENST00000634384.1:c.*3718_*3719dup	ENSP00000489041.1:n.*3718_*3719dup
ENST00000635452.1:n.2105_2106dup
ENST00000635464.1:c.3851_3852dup	ENSP00000489199.1:n.3851_3852dup
NM_007248.3:c.868_869dup (TREX1)	NP_009179.2:p.Val291GlnfsTer2
NM_016381.5:c.1063_1064dup (TREX1)	NP_057465.1:p.Val356GlnfsTer2
NM_033629.4:c.898_899dup (TREX1)	NP_338599.1:p.Val301GlnfsTer2
NM_007248.4:c.868_869dup (TREX1)	NP_009179.2:p.Val291GlnfsTer2
NM_033629.5:c.898_899dup (TREX1)	NP_338599.1:p.Val301GlnfsTer2
NR_153405.1:n.4207_4208dup
NM_033629.6:c.898_899dup (TREX1) MANE Select	NP_338599.1:p.Val301GlnfsTer2
NM_130384.3:c.*1999_*2000dup (ATRIP) MANE Select	NP_569055.1:n.*1999_*2000dup
NM_001271023.2:c.*1999_*2000dup (ATRIP)	NP_001257952.1:n.*1999_*2000dup
NM_007248.5:c.868_869dup (TREX1)	NP_009179.2:p.Val291GlnfsTer2
NM_032166.4:c.*1999_*2000dup (ATRIP)	NP_115542.2:n.*1999_*2000dup
NM_001271022.2:c.*1999_*2000dup (ATRIP)	NP_001257951.1:n.*1999_*2000dup