Canonical Allele Identifier: CA2586972152

Gene: ATRIP TREX1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467403_48467406dup , CM000665.2:g.48467403_48467406dup	GRCh38
NC_000003.11:g.48508802_48508805dup , CM000665.1:g.48508802_48508805dup	GRCh37
NC_000003.10:g.48483806_48483809dup	NCBI36
NG_009820.1:g.6574_6577dup
NG_033100.1:g.38457_38460dup
NG_041782.1:g.25694_25697dup
NG_009820.2:g.6574_6577dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1849_*1852dup (ATRIP) MANE Select	ENSP00000323099.3:n.*1849_*1852dup
ENST00000492235.2:c.331_334dup (TREX1)	ENSP00000494511.1:p.Thr112AsnfsTer12
ENST00000625293.3:c.748_751dup (TREX1) MANE Select	ENSP00000486676.2:p.Thr251AsnfsTer12
ENST00000634384.2:c.3343_3346dup (ATRIP)
ENST00000635452.2:c.331_334dup (TREX1)	ENSP00000492023.2:p.Thr112AsnfsTer12
ENST00000296443.11:c.748_751dup	ENSP00000296443.11:p.Thr251AsnfsTer12
ENST00000433541.1:c.331_334dup (TREX1)	ENSP00000412404.1:p.Thr112AsnfsTer12
ENST00000444177.1:c.718_721dup (TREX1)	ENSP00000415972.1:p.Thr241AsnfsTer12
ENST00000456089.1:c.331_334dup (TREX1)	ENSP00000411331.1:p.Thr112AsnfsTer12
ENST00000492235.1:n.666_669dup (TREX1)
ENST00000625293.1:c.913_916dup (TREX1)	ENSP00000486676.1:p.Thr306AsnfsTer12
ENST00000629913.1:c.748_751dup (TREX1)	ENSP00000486444.1:p.Thr251AsnfsTer12
ENST00000634384.1:c.*3568_*3571dup	ENSP00000489041.1:n.*3568_*3571dup
ENST00000635452.1:n.1955_1958dup
ENST00000635464.1:c.3701_3704dup	ENSP00000489199.1:n.3701_3704dup
NM_007248.3:c.718_721dup (TREX1)	NP_009179.2:p.Thr241AsnfsTer12
NM_016381.5:c.913_916dup (TREX1)	NP_057465.1:p.Thr306AsnfsTer12
NM_033629.4:c.748_751dup (TREX1)	NP_338599.1:p.Thr251AsnfsTer12
NM_007248.4:c.718_721dup (TREX1)	NP_009179.2:p.Thr241AsnfsTer12
NM_033629.5:c.748_751dup (TREX1)	NP_338599.1:p.Thr251AsnfsTer12
NR_153405.1:n.4057_4060dup
NM_033629.6:c.748_751dup (TREX1) MANE Select	NP_338599.1:p.Thr251AsnfsTer12
NM_130384.3:c.*1849_*1852dup (ATRIP) MANE Select	NP_569055.1:n.*1849_*1852dup
NM_001271023.2:c.*1849_*1852dup (ATRIP)	NP_001257952.1:n.*1849_*1852dup
NM_007248.5:c.718_721dup (TREX1)	NP_009179.2:p.Thr241AsnfsTer12
NM_032166.4:c.*1849_*1852dup (ATRIP)	NP_115542.2:n.*1849_*1852dup
NM_001271022.2:c.*1849_*1852dup (ATRIP)	NP_001257951.1:n.*1849_*1852dup