Canonical Allele Identifier: CA916887945

Gene: ATRIP TREX1

Linked Data

• dbSNP Id: rs1268697845
• gnomAD v4: 3-48467180-GAGCTAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467184_48467189del , CM000665.2:g.48467184_48467189del	GRCh38
NG_041782.1:g.25475_25480del
NG_009820.2:g.6355_6360del

Transcript Alleles

HGVS	Amino-acid change
ENST00000320211.10:c.*1630_*1635del (ATRIP) MANE Select	ENSP00000323099.3:n.*1630_*1635del
ENST00000492235.2:c.112_117del (TREX1)	ENSP00000494511.1:p.Tyr38_Ser39del
ENST00000625293.3:c.529_534del (TREX1) MANE Select	ENSP00000486676.2:p.Tyr177_Ser178del
ENST00000634384.2:c.3124_3129del (ATRIP)
ENST00000635452.2:c.112_117del (TREX1)	ENSP00000492023.2:p.Tyr38_Ser39del
ENST00000296443.11:c.529_534del	ENSP00000296443.11:p.Tyr177_Ser178del
ENST00000433541.1:c.112_117del (TREX1)	ENSP00000412404.1:p.Tyr38_Ser39del
ENST00000444177.1:c.499_504del (TREX1)	ENSP00000415972.1:p.Tyr167_Ser168del
ENST00000456089.1:c.112_117del (TREX1)	ENSP00000411331.1:p.Tyr38_Ser39del
ENST00000492235.1:n.447_452del (TREX1)
ENST00000625293.1:c.694_699del (TREX1)	ENSP00000486676.1:p.Tyr232_Ser233del
ENST00000629913.1:c.529_534del (TREX1)	ENSP00000486444.1:p.Tyr177_Ser178del
ENST00000634384.1:c.*3349_*3354del	ENSP00000489041.1:n.*3349_*3354del
ENST00000635452.1:n.1736_1741del
ENST00000635464.1:c.3482_3487del	ENSP00000489199.1:n.3482_3487del
NM_007248.3:c.499_504del (TREX1)	NP_009179.2:p.Tyr167_Ser168del
NM_016381.5:c.694_699del (TREX1)	NP_057465.1:p.Tyr232_Ser233del
NM_033629.4:c.529_534del (TREX1)	NP_338599.1:p.Tyr177_Ser178del
NM_007248.4:c.499_504del (TREX1)	NP_009179.2:p.Tyr167_Ser168del
NM_033629.5:c.529_534del (TREX1)	NP_338599.1:p.Tyr177_Ser178del
NR_153405.1:n.3838_3843del
NM_033629.6:c.529_534del (TREX1) MANE Select	NP_338599.1:p.Tyr177_Ser178del
NM_130384.3:c.*1630_*1635del (ATRIP) MANE Select	NP_569055.1:n.*1630_*1635del
NM_001271023.2:c.*1630_*1635del (ATRIP)	NP_001257952.1:n.*1630_*1635del
NM_007248.5:c.499_504del (TREX1)	NP_009179.2:p.Tyr167_Ser168del
NM_032166.4:c.*1630_*1635del (ATRIP)	NP_115542.2:n.*1630_*1635del
NM_001271022.2:c.*1630_*1635del (ATRIP)	NP_001257951.1:n.*1630_*1635del