Canonical Allele Identifier: CA2740094409

Gene: ATRIP TREX1

Linked Data

• ClinVar Variation Id: 2945022
• ClinVar RCV Id: RCV003800676

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48466710dup , CM000665.2:g.48466710dup	GRCh38
NC_000003.11:g.48508109dup , CM000665.1:g.48508109dup	GRCh37
NC_000003.10:g.48483113dup	NCBI36
NG_009820.1:g.5881dup
NG_033100.1:g.39151dup
NG_041782.1:g.25001dup
NG_009820.2:g.5881dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1156dup (ATRIP) MANE Select	ENSP00000323099.3:n.*1156dup
ENST00000492235.2:c.-295-68dup (TREX1)	ENSP00000494511.1:n.-295-68dup
ENST00000625293.3:c.55dup (TREX1) MANE Select	ENSP00000486676.2:p.Met19AsnfsTer?
ENST00000634384.2:c.2650dup (ATRIP)
ENST00000635452.2:c.-333-30dup (TREX1)	ENSP00000492023.2:n.-333-30dup
ENST00000296443.11:c.55dup	ENSP00000296443.11:p.Met19AsnfsTer?
ENST00000433541.1:c.-333-30dup (TREX1)	ENSP00000412404.1:n.-333-30dup
ENST00000444177.1:c.25dup (TREX1)	ENSP00000415972.1:p.Met9AsnfsTer?
ENST00000456089.1:c.-8-355dup (TREX1)	ENSP00000411331.1:n.-8-355dup
ENST00000492235.1:n.41-68dup (TREX1)
ENST00000625293.1:c.220dup (TREX1)	ENSP00000486676.1:p.Met74AsnfsTer?
ENST00000629913.1:c.55dup (TREX1)	ENSP00000486444.1:p.Met19AsnfsTer?
ENST00000634384.1:c.*2875dup	ENSP00000489041.1:n.*2875dup
ENST00000635452.1:n.1262dup
ENST00000635464.1:c.3008dup	ENSP00000489199.1:n.3008dup
NM_007248.3:c.25dup (TREX1)	NP_009179.2:p.Met9AsnfsTer?
NM_016381.5:c.220dup (TREX1)	NP_057465.1:p.Met74AsnfsTer?
NM_033629.4:c.55dup (TREX1)	NP_338599.1:p.Met19AsnfsTer?
NM_007248.4:c.25dup (TREX1)	NP_009179.2:p.Met9AsnfsTer?
NM_033629.5:c.55dup (TREX1)	NP_338599.1:p.Met19AsnfsTer?
NR_153405.1:n.3364dup
NM_033629.6:c.55dup (TREX1) MANE Select	NP_338599.1:p.Met19AsnfsTer?
NM_130384.3:c.*1156dup (ATRIP) MANE Select	NP_569055.1:n.*1156dup
NM_001271023.2:c.*1156dup (ATRIP)	NP_001257952.1:n.*1156dup
NM_007248.5:c.25dup (TREX1)	NP_009179.2:p.Met9AsnfsTer?
NM_032166.4:c.*1156dup (ATRIP)	NP_115542.2:n.*1156dup
NM_001271022.2:c.*1156dup (ATRIP)	NP_001257951.1:n.*1156dup