Canonical Allele Identifier: CA345481

Gene: ATRIP TREX1

Linked Data

• ClinVar Variation Id: 126390
• ClinVar RCV Id: RCV000114330 ; RCV001384732 ; RCV001731376 ; RCV003137626 ; RCV003905089
• dbSNP Id: rs78300695
• ExAC: 3:48508110 T / TG
• gnomAD v2: 3-48508110-T-TG
• gnomAD v3: 3-48466711-T-TG
• gnomAD v4: 3-48466711-T-TG
• MyVariant Identifiers: chr3:g.48508112dupG (hg19) ; chr3:g.48508113_48508114delinsGAG (hg19) ; chr3:g.48508110_48508111insG (hg19) ; chr3:g.48466713dupG (hg38) ; chr3:g.48466714_48466715delinsGAG (hg38) ; chr3:g.48466711_48466712insG (hg38)
• PubMed: PMID:20301648 ; PMID:26938784

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48466713dup , CM000665.2:g.48466713dup	GRCh38
NC_000003.11:g.48508112dup , CM000665.1:g.48508112dup	GRCh37
NC_000003.10:g.48483116dup	NCBI36
NG_009820.1:g.5884dup
NG_033100.1:g.39149dup
NG_041782.1:g.25004dup
NG_009820.2:g.5884dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000320211.10:c.*1159dup (ATRIP) MANE Select	ENSP00000323099.3:n.*1159dup
ENST00000492235.2:c.-295-65dup (TREX1)	ENSP00000494511.1:n.-295-65dup
ENST00000625293.3:c.58dup (TREX1) MANE Select	ENSP00000486676.2:p.Glu20GlyfsTer?
ENST00000634384.2:c.2653dup (ATRIP)
ENST00000635452.2:c.-333-27dup (TREX1)	ENSP00000492023.2:n.-333-27dup
ENST00000296443.11:c.58dup	ENSP00000296443.11:p.Glu20GlyfsTer?
ENST00000433541.1:c.-333-27dup (TREX1)	ENSP00000412404.1:n.-333-27dup
ENST00000444177.1:c.28dup (TREX1)	ENSP00000415972.1:p.Glu10GlyfsTer?
ENST00000456089.1:c.-8-352dup (TREX1)	ENSP00000411331.1:n.-8-352dup
ENST00000492235.1:n.41-65dup (TREX1)
ENST00000625293.1:c.223dup (TREX1)	ENSP00000486676.1:p.Glu75GlyfsTer?
ENST00000629913.1:c.58dup (TREX1)	ENSP00000486444.1:p.Glu20GlyfsTer?
ENST00000634384.1:c.*2878dup	ENSP00000489041.1:n.*2878dup
ENST00000635452.1:n.1265dup
ENST00000635464.1:c.3011dup	ENSP00000489199.1:n.3011dup
NM_007248.3:c.28dup (TREX1)	NP_009179.2:p.Glu10GlyfsTer?
NM_016381.5:c.223dup (TREX1)	NP_057465.1:p.Glu75GlyfsTer?
NM_033629.4:c.58dup (TREX1)	NP_338599.1:p.Glu20GlyfsTer?
NM_007248.4:c.28dup (TREX1)	NP_009179.2:p.Glu10GlyfsTer?
NM_033629.5:c.58dup (TREX1)	NP_338599.1:p.Glu20GlyfsTer?
NR_153405.1:n.3367dup
NM_033629.6:c.58dup (TREX1) MANE Select	NP_338599.1:p.Glu20GlyfsTer?
NM_130384.3:c.*1159dup (ATRIP) MANE Select	NP_569055.1:n.*1159dup
NM_001271023.2:c.*1159dup (ATRIP)	NP_001257952.1:n.*1159dup
NM_007248.5:c.28dup (TREX1)	NP_009179.2:p.Glu10GlyfsTer?
NM_032166.4:c.*1159dup (ATRIP)	NP_115542.2:n.*1159dup
NM_001271022.2:c.*1159dup (ATRIP)	NP_001257951.1:n.*1159dup