Canonical Allele Identifier: CA2740094421

Gene: ATRIP TREX1

Linked Data

• ClinVar Variation Id: 2952333
• ClinVar RCV Id: RCV003815484

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467557dup , CM000665.2:g.48467557dup	GRCh38
NC_000003.11:g.48508956dup , CM000665.1:g.48508956dup	GRCh37
NC_000003.10:g.48483960dup	NCBI36
NG_009820.1:g.6728dup
NG_033100.1:g.38304dup
NG_041782.1:g.25848dup
NG_009820.2:g.6728dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*2003dup (ATRIP) MANE Select	ENSP00000323099.3:n.*2003dup
ENST00000492235.2:c.485dup (TREX1)	ENSP00000494511.1:p.Ala163SerfsTer23
ENST00000625293.3:c.902dup (TREX1) MANE Select	ENSP00000486676.2:p.Ala302SerfsTer23
ENST00000634384.2:c.3497dup (ATRIP)
ENST00000635452.2:c.485dup (TREX1)	ENSP00000492023.2:p.Ala163SerfsTer23
ENST00000296443.11:c.902dup	ENSP00000296443.11:p.Ala302SerfsTer23
ENST00000433541.1:c.485dup (TREX1)	ENSP00000412404.1:p.Ala163SerfsTer23
ENST00000444177.1:c.872dup (TREX1)	ENSP00000415972.1:p.Ala292SerfsTer23
ENST00000456089.1:c.485dup (TREX1)	ENSP00000411331.1:p.Ala163SerfsTer23
ENST00000625293.1:c.1067dup (TREX1)	ENSP00000486676.1:p.Ala357SerfsTer23
ENST00000629913.1:c.902dup (TREX1)	ENSP00000486444.1:p.Ala302SerfsTer?
ENST00000634384.1:c.*3722dup	ENSP00000489041.1:n.*3722dup
ENST00000635452.1:n.2109dup
ENST00000635464.1:c.3855dup	ENSP00000489199.1:n.3855dup
NM_007248.3:c.872dup (TREX1)	NP_009179.2:p.Ala292SerfsTer23
NM_016381.5:c.1067dup (TREX1)	NP_057465.1:p.Ala357SerfsTer23
NM_033629.4:c.902dup (TREX1)	NP_338599.1:p.Ala302SerfsTer23
NM_007248.4:c.872dup (TREX1)	NP_009179.2:p.Ala292SerfsTer23
NM_033629.5:c.902dup (TREX1)	NP_338599.1:p.Ala302SerfsTer23
NR_153405.1:n.4211dup
NM_033629.6:c.902dup (TREX1) MANE Select	NP_338599.1:p.Ala302SerfsTer23
NM_130384.3:c.*2003dup (ATRIP) MANE Select	NP_569055.1:n.*2003dup
NM_001271023.2:c.*2003dup (ATRIP)	NP_001257952.1:n.*2003dup
NM_007248.5:c.872dup (TREX1)	NP_009179.2:p.Ala292SerfsTer23
NM_032166.4:c.*2003dup (ATRIP)	NP_115542.2:n.*2003dup
NM_001271022.2:c.*2003dup (ATRIP)	NP_001257951.1:n.*2003dup