Canonical Allele Identifier: CA2665603283

Gene: ATRIP TREX1

Linked Data

• gnomAD v4: 3-48467557-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467558dup , CM000665.2:g.48467558dup	GRCh38
NC_000003.11:g.48508957dup , CM000665.1:g.48508957dup	GRCh37
NC_000003.10:g.48483961dup	NCBI36
NG_009820.1:g.6729dup
NG_033100.1:g.38303dup
NG_041782.1:g.25849dup
NG_009820.2:g.6729dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*2004dup (ATRIP) MANE Select	ENSP00000323099.3:n.*2004dup
ENST00000492235.2:c.486dup (TREX1)	ENSP00000494511.1:p.Ala163SerfsTer23
ENST00000625293.3:c.903dup (TREX1) MANE Select	ENSP00000486676.2:p.Ala302SerfsTer23
ENST00000634384.2:c.3498dup (ATRIP)
ENST00000635452.2:c.486dup (TREX1)	ENSP00000492023.2:p.Ala163SerfsTer23
ENST00000296443.11:c.903dup	ENSP00000296443.11:p.Ala302SerfsTer23
ENST00000433541.1:c.486dup (TREX1)	ENSP00000412404.1:p.Ala163SerfsTer23
ENST00000444177.1:c.873dup (TREX1)	ENSP00000415972.1:p.Ala292SerfsTer23
ENST00000456089.1:c.486dup (TREX1)	ENSP00000411331.1:p.Ala163SerfsTer23
ENST00000625293.1:c.1068dup (TREX1)	ENSP00000486676.1:p.Ala357SerfsTer23
ENST00000629913.1:c.903dup (TREX1)	ENSP00000486444.1:p.Ala302SerfsTer?
ENST00000634384.1:c.*3723dup	ENSP00000489041.1:n.*3723dup
ENST00000635452.1:n.2110dup
ENST00000635464.1:c.3856dup	ENSP00000489199.1:n.3856dup
NM_007248.3:c.873dup (TREX1)	NP_009179.2:p.Ala292SerfsTer23
NM_016381.5:c.1068dup (TREX1)	NP_057465.1:p.Ala357SerfsTer23
NM_033629.4:c.903dup (TREX1)	NP_338599.1:p.Ala302SerfsTer23
NM_007248.4:c.873dup (TREX1)	NP_009179.2:p.Ala292SerfsTer23
NM_033629.5:c.903dup (TREX1)	NP_338599.1:p.Ala302SerfsTer23
NR_153405.1:n.4212dup
NM_033629.6:c.903dup (TREX1) MANE Select	NP_338599.1:p.Ala302SerfsTer23
NM_130384.3:c.*2004dup (ATRIP) MANE Select	NP_569055.1:n.*2004dup
NM_001271023.2:c.*2004dup (ATRIP)	NP_001257952.1:n.*2004dup
NM_007248.5:c.873dup (TREX1)	NP_009179.2:p.Ala292SerfsTer23
NM_032166.4:c.*2004dup (ATRIP)	NP_115542.2:n.*2004dup
NM_001271022.2:c.*2004dup (ATRIP)	NP_001257951.1:n.*2004dup