Canonical Allele Identifier: CA1363031444

Gene: ATRIP TREX1

Linked Data

• dbSNP Id: rs2040392794

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467583del , CM000665.2:g.48467583del	GRCh38
NC_000003.11:g.48508982del , CM000665.1:g.48508982del	GRCh37
NC_000003.10:g.48483986del	NCBI36
NG_009820.1:g.6754del
NG_033100.1:g.38279del
NG_041782.1:g.25874del
NG_009820.2:g.6754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*2029del (ATRIP) MANE Select	ENSP00000323099.3:n.*2029del
ENST00000492235.2:c.511del (TREX1)	ENSP00000494511.1:p.Ala171ProfsTer12
ENST00000625293.3:c.928del (TREX1) MANE Select	ENSP00000486676.2:p.Ala310ProfsTer12
ENST00000634384.2:c.3523del (ATRIP)
ENST00000635452.2:c.511del (TREX1)	ENSP00000492023.2:p.Ala171ProfsTer12
ENST00000296443.11:c.928del	ENSP00000296443.11:p.Ala310ProfsTer12
ENST00000433541.1:c.511del (TREX1)	ENSP00000412404.1:p.Ala171ProfsTer12
ENST00000444177.1:c.898del (TREX1)	ENSP00000415972.1:p.Ala300ProfsTer12
ENST00000456089.1:c.511del (TREX1)	ENSP00000411331.1:p.Ala171ProfsTer12
ENST00000625293.1:c.1093del (TREX1)	ENSP00000486676.1:p.Ala365ProfsTer12
ENST00000629913.1:c.928del (TREX1)	ENSP00000486444.1:p.Ala310ProfsTer?
ENST00000634384.1:c.*3748del	ENSP00000489041.1:n.*3748del
ENST00000635452.1:n.2135del
ENST00000635464.1:c.3881del	ENSP00000489199.1:n.3881del
NM_007248.3:c.898del (TREX1)	NP_009179.2:p.Ala300ProfsTer12
NM_016381.5:c.1093del (TREX1)	NP_057465.1:p.Ala365ProfsTer12
NM_033629.4:c.928del (TREX1)	NP_338599.1:p.Ala310ProfsTer12
NM_007248.4:c.898del (TREX1)	NP_009179.2:p.Ala300ProfsTer12
NM_033629.5:c.928del (TREX1)	NP_338599.1:p.Ala310ProfsTer12
NR_153405.1:n.4237del
NM_033629.6:c.928del (TREX1) MANE Select	NP_338599.1:p.Ala310ProfsTer12
NM_130384.3:c.*2029del (ATRIP) MANE Select	NP_569055.1:n.*2029del
NM_001271023.2:c.*2029del (ATRIP)	NP_001257952.1:n.*2029del
NM_007248.5:c.898del (TREX1)	NP_009179.2:p.Ala300ProfsTer12
NM_032166.4:c.*2029del (ATRIP)	NP_115542.2:n.*2029del
NM_001271022.2:c.*2029del (ATRIP)	NP_001257951.1:n.*2029del