Canonical Allele Identifier: CA2665602954

Gene: ATRIP TREX1

Linked Data

• gnomAD v4: 3-48467319-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467320dup , CM000665.2:g.48467320dup	GRCh38
NC_000003.11:g.48508719dup , CM000665.1:g.48508719dup	GRCh37
NC_000003.10:g.48483723dup	NCBI36
NG_009820.1:g.6491dup
NG_033100.1:g.38541dup
NG_041782.1:g.25611dup
NG_009820.2:g.6491dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1766dup (ATRIP) MANE Select	ENSP00000323099.3:n.*1766dup
ENST00000492235.2:c.248dup (TREX1)	ENSP00000494511.1:p.His83GlnfsTer19
ENST00000625293.3:c.665dup (TREX1) MANE Select	ENSP00000486676.2:p.His222GlnfsTer19
ENST00000634384.2:c.3260dup (ATRIP)
ENST00000635452.2:c.248dup (TREX1)	ENSP00000492023.2:p.His83GlnfsTer19
ENST00000296443.11:c.665dup	ENSP00000296443.11:p.His222GlnfsTer19
ENST00000433541.1:c.248dup (TREX1)	ENSP00000412404.1:p.His83GlnfsTer19
ENST00000444177.1:c.635dup (TREX1)	ENSP00000415972.1:p.His212GlnfsTer19
ENST00000456089.1:c.248dup (TREX1)	ENSP00000411331.1:p.His83GlnfsTer19
ENST00000492235.1:n.583dup (TREX1)
ENST00000625293.1:c.830dup (TREX1)	ENSP00000486676.1:p.His277GlnfsTer19
ENST00000629913.1:c.665dup (TREX1)	ENSP00000486444.1:p.His222GlnfsTer19
ENST00000634384.1:c.*3485dup	ENSP00000489041.1:n.*3485dup
ENST00000635452.1:n.1872dup
ENST00000635464.1:c.3618dup	ENSP00000489199.1:n.3618dup
NM_007248.3:c.635dup (TREX1)	NP_009179.2:p.His212GlnfsTer19
NM_016381.5:c.830dup (TREX1)	NP_057465.1:p.His277GlnfsTer19
NM_033629.4:c.665dup (TREX1)	NP_338599.1:p.His222GlnfsTer19
NM_007248.4:c.635dup (TREX1)	NP_009179.2:p.His212GlnfsTer19
NM_033629.5:c.665dup (TREX1)	NP_338599.1:p.His222GlnfsTer19
NR_153405.1:n.3974dup
NM_033629.6:c.665dup (TREX1) MANE Select	NP_338599.1:p.His222GlnfsTer19
NM_130384.3:c.*1766dup (ATRIP) MANE Select	NP_569055.1:n.*1766dup
NM_001271023.2:c.*1766dup (ATRIP)	NP_001257952.1:n.*1766dup
NM_007248.5:c.635dup (TREX1)	NP_009179.2:p.His212GlnfsTer19
NM_032166.4:c.*1766dup (ATRIP)	NP_115542.2:n.*1766dup
NM_001271022.2:c.*1766dup (ATRIP)	NP_001257951.1:n.*1766dup