Canonical Allele Identifier: CA2740094419

Gene: ATRIP TREX1

Linked Data

• ClinVar Variation Id: 2938556
• ClinVar RCV Id: RCV003799330

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467186_48467203del , CM000665.2:g.48467186_48467203del	GRCh38
NG_041782.1:g.25477_25494del
NG_009820.2:g.6357_6374del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1632_*1649del (ATRIP) MANE Select	ENSP00000323099.3:n.*1632_*1649del
ENST00000492235.2:c.114_131del (TREX1)	ENSP00000494511.1:p.Ser39_Tyr44del
ENST00000625293.3:c.531_548del (TREX1) MANE Select	ENSP00000486676.2:p.Ser178_Tyr183del
ENST00000634384.2:c.3126_3143del (ATRIP)
ENST00000635452.2:c.114_131del (TREX1)	ENSP00000492023.2:p.Ser39_Tyr44del
ENST00000296443.11:c.531_548del	ENSP00000296443.11:p.Ser178_Tyr183del
ENST00000433541.1:c.114_131del (TREX1)	ENSP00000412404.1:p.Ser39_Tyr44del
ENST00000444177.1:c.501_518del (TREX1)	ENSP00000415972.1:p.Ser168_Tyr173del
ENST00000456089.1:c.114_131del (TREX1)	ENSP00000411331.1:p.Ser39_Tyr44del
ENST00000492235.1:n.449_466del (TREX1)
ENST00000625293.1:c.696_713del (TREX1)	ENSP00000486676.1:p.Ser233_Tyr238del
ENST00000629913.1:c.531_548del (TREX1)	ENSP00000486444.1:p.Ser178_Tyr183del
ENST00000634384.1:c.*3351_*3368del	ENSP00000489041.1:n.*3351_*3368del
ENST00000635452.1:n.1738_1755del
ENST00000635464.1:c.3484_3501del	ENSP00000489199.1:n.3484_3501del
NM_007248.3:c.501_518del (TREX1)	NP_009179.2:p.Ser168_Tyr173del
NM_016381.5:c.696_713del (TREX1)	NP_057465.1:p.Ser233_Tyr238del
NM_033629.4:c.531_548del (TREX1)	NP_338599.1:p.Ser178_Tyr183del
NM_007248.4:c.501_518del (TREX1)	NP_009179.2:p.Ser168_Tyr173del
NM_033629.5:c.531_548del (TREX1)	NP_338599.1:p.Ser178_Tyr183del
NR_153405.1:n.3840_3857del
NM_033629.6:c.531_548del (TREX1) MANE Select	NP_338599.1:p.Ser178_Tyr183del
NM_130384.3:c.*1632_*1649del (ATRIP) MANE Select	NP_569055.1:n.*1632_*1649del
NM_001271023.2:c.*1632_*1649del (ATRIP)	NP_001257952.1:n.*1632_*1649del
NM_007248.5:c.501_518del (TREX1)	NP_009179.2:p.Ser168_Tyr173del
NM_032166.4:c.*1632_*1649del (ATRIP)	NP_115542.2:n.*1632_*1649del
NM_001271022.2:c.*1632_*1649del (ATRIP)	NP_001257951.1:n.*1632_*1649del