Canonical Allele Identifier: CA543045047

Gene: ATRIP TREX1

Linked Data

• ClinVar Variation Id: 1512260
• ClinVar RCV Id: RCV002022942
• dbSNP Id: rs1315240244
• gnomAD v2: 3-48508959-CCA-C
• gnomAD v4: 3-48467560-CCA-C
• MyVariant Identifiers: chr3:g.48508960_48508961del (hg19) ; chr3:g.48467561_48467562del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467564_48467565del , CM000665.2:g.48467564_48467565del	GRCh38
NC_000003.11:g.48508963_48508964del , CM000665.1:g.48508963_48508964del	GRCh37
NC_000003.10:g.48483967_48483968del	NCBI36
NG_009820.1:g.6735_6736del
NG_033100.1:g.38299_38300del
NG_041782.1:g.25855_25856del
NG_009820.2:g.6735_6736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*2010_*2011del (ATRIP) MANE Select	ENSP00000323099.3:n.*2010_*2011del
ENST00000492235.2:c.492_493del (TREX1)	ENSP00000494511.1:p.Leu165ValfsTer20
ENST00000625293.3:c.909_910del (TREX1) MANE Select	ENSP00000486676.2:p.Leu304ValfsTer20
ENST00000634384.2:c.3504_3505del (ATRIP)
ENST00000635452.2:c.492_493del (TREX1)	ENSP00000492023.2:p.Leu165ValfsTer20
ENST00000296443.11:c.909_910del	ENSP00000296443.11:p.Leu304ValfsTer20
ENST00000433541.1:c.492_493del (TREX1)	ENSP00000412404.1:p.Leu165ValfsTer20
ENST00000444177.1:c.879_880del (TREX1)	ENSP00000415972.1:p.Leu294ValfsTer20
ENST00000456089.1:c.492_493del (TREX1)	ENSP00000411331.1:p.Leu165ValfsTer20
ENST00000625293.1:c.1074_1075del (TREX1)	ENSP00000486676.1:p.Leu359ValfsTer20
ENST00000629913.1:c.909_910del (TREX1)	ENSP00000486444.1:p.Leu304ValfsTer?
ENST00000634384.1:c.*3729_*3730del	ENSP00000489041.1:n.*3729_*3730del
ENST00000635452.1:n.2116_2117del
ENST00000635464.1:c.3862_3863del	ENSP00000489199.1:n.3862_3863del
NM_007248.3:c.879_880del (TREX1)	NP_009179.2:p.Leu294ValfsTer20
NM_016381.5:c.1074_1075del (TREX1)	NP_057465.1:p.Leu359ValfsTer20
NM_033629.4:c.909_910del (TREX1)	NP_338599.1:p.Leu304ValfsTer20
NM_007248.4:c.879_880del (TREX1)	NP_009179.2:p.Leu294ValfsTer20
NM_033629.5:c.909_910del (TREX1)	NP_338599.1:p.Leu304ValfsTer20
NR_153405.1:n.4218_4219del
NM_033629.6:c.909_910del (TREX1) MANE Select	NP_338599.1:p.Leu304ValfsTer20
NM_130384.3:c.*2010_*2011del (ATRIP) MANE Select	NP_569055.1:n.*2010_*2011del
NM_001271023.2:c.*2010_*2011del (ATRIP)	NP_001257952.1:n.*2010_*2011del
NM_007248.5:c.879_880del (TREX1)	NP_009179.2:p.Leu294ValfsTer20
NM_032166.4:c.*2010_*2011del (ATRIP)	NP_115542.2:n.*2010_*2011del
NM_001271022.2:c.*2010_*2011del (ATRIP)	NP_001257951.1:n.*2010_*2011del