Canonical Allele Identifier: CA2665602599

Gene: ATRIP TREX1

Linked Data

• gnomAD v4: 3-48467141-G-GGAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467146_48467149dup , CM000665.2:g.48467146_48467149dup	GRCh38
NC_000003.11:g.48508545_48508548dup , CM000665.1:g.48508545_48508548dup	GRCh37
NC_000003.10:g.48483549_48483552dup	NCBI36
NG_009820.1:g.6317_6320dup
NG_033100.1:g.38716_38719dup
NG_041782.1:g.25437_25440dup
NG_009820.2:g.6317_6320dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000320211.10:c.*1592_*1595dup (ATRIP) MANE Select	ENSP00000323099.3:n.*1592_*1595dup
ENST00000492235.2:c.74_77dup (TREX1)	ENSP00000494511.1:p.Ser28LysfsTer13
ENST00000625293.3:c.491_494dup (TREX1) MANE Select	ENSP00000486676.2:p.Ser167LysfsTer13
ENST00000634384.2:c.3086_3089dup (ATRIP)
ENST00000635452.2:c.74_77dup (TREX1)	ENSP00000492023.2:p.Ser28LysfsTer13
ENST00000296443.11:c.491_494dup	ENSP00000296443.11:p.Ser167LysfsTer13
ENST00000433541.1:c.74_77dup (TREX1)	ENSP00000412404.1:p.Ser28LysfsTer13
ENST00000444177.1:c.461_464dup (TREX1)	ENSP00000415972.1:p.Ser157LysfsTer13
ENST00000456089.1:c.74_77dup (TREX1)	ENSP00000411331.1:p.Ser28LysfsTer13
ENST00000492235.1:n.409_412dup (TREX1)
ENST00000625293.1:c.656_659dup (TREX1)	ENSP00000486676.1:p.Ser222LysfsTer13
ENST00000629913.1:c.491_494dup (TREX1)	ENSP00000486444.1:p.Ser167LysfsTer13
ENST00000634384.1:c.*3311_*3314dup	ENSP00000489041.1:n.*3311_*3314dup
ENST00000635452.1:n.1698_1701dup
ENST00000635464.1:c.3444_3447dup	ENSP00000489199.1:n.3444_3447dup
NM_007248.3:c.461_464dup (TREX1)	NP_009179.2:p.Ser157LysfsTer13
NM_016381.5:c.656_659dup (TREX1)	NP_057465.1:p.Ser222LysfsTer13
NM_033629.4:c.491_494dup (TREX1)	NP_338599.1:p.Ser167LysfsTer13
NM_007248.4:c.461_464dup (TREX1)	NP_009179.2:p.Ser157LysfsTer13
NM_033629.5:c.491_494dup (TREX1)	NP_338599.1:p.Ser167LysfsTer13
NR_153405.1:n.3800_3803dup
NM_033629.6:c.491_494dup (TREX1) MANE Select	NP_338599.1:p.Ser167LysfsTer13
NM_130384.3:c.*1592_*1595dup (ATRIP) MANE Select	NP_569055.1:n.*1592_*1595dup
NM_001271023.2:c.*1592_*1595dup (ATRIP)	NP_001257952.1:n.*1592_*1595dup
NM_007248.5:c.461_464dup (TREX1)	NP_009179.2:p.Ser157LysfsTer13
NM_032166.4:c.*1592_*1595dup (ATRIP)	NP_115542.2:n.*1592_*1595dup
NM_001271022.2:c.*1592_*1595dup (ATRIP)	NP_001257951.1:n.*1592_*1595dup