Canonical Allele Identifier: CA1363031007

Gene: ATRIP TREX1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48466801_48466803delinsCCT , CM000665.2:g.48466801_48466803delinsCCT	GRCh38
NC_000003.11:g.48508200_48508202delinsCCT , CM000665.1:g.48508200_48508202delinsCCT	GRCh37
NC_000003.10:g.48483204_48483206delinsCCT	NCBI36
NG_009820.1:g.5972_5974delinsCCT
NG_033100.1:g.39058_39060delinsAGG
NG_041782.1:g.25092_25094delinsCCT
NG_009820.2:g.5972_5974delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1247_*1249delinsCCT (ATRIP) MANE Select	ENSP00000323099.3:n.*1247_*1249delinsCCT
ENST00000492235.2:c.-272_-270delinsCCT (TREX1)	ENSP00000494511.1:n.-272_-270delinsCCT
ENST00000625293.3:c.146_148delinsCCT (TREX1) MANE Select	ENSP00000486676.2:p.Thr49=
ENST00000634384.2:c.2741_2743delinsCCT (ATRIP)
ENST00000635452.2:c.-272_-270delinsCCT (TREX1)	ENSP00000492023.2:n.-272_-270delinsCCT
ENST00000296443.11:c.146_148delinsCCT	ENSP00000296443.11:p.Thr49=
ENST00000433541.1:c.-272_-270delinsCCT (TREX1)	ENSP00000412404.1:n.-272_-270delinsCCT
ENST00000444177.1:c.116_118delinsCCT (TREX1)	ENSP00000415972.1:p.Thr39=
ENST00000456089.1:c.-8-264_-8-262delinsCCT (TREX1)	ENSP00000411331.1:n.-8-264_-8-262delinsCCT
ENST00000492235.1:n.64_66delinsCCT (TREX1)
ENST00000625293.1:c.311_313delinsCCT (TREX1)	ENSP00000486676.1:p.Thr104=
ENST00000629913.1:c.146_148delinsCCT (TREX1)	ENSP00000486444.1:p.Thr49=
ENST00000634384.1:c.*2966_*2968delinsCCT	ENSP00000489041.1:n.*2966_*2968delinsCCT
ENST00000635452.1:n.1353_1355delinsCCT
ENST00000635464.1:c.3099_3101delinsCCT	ENSP00000489199.1:n.3099_3101delinsCCT
NM_007248.3:c.116_118delinsCCT (TREX1)	NP_009179.2:p.Thr39=
NM_016381.5:c.311_313delinsCCT (TREX1)	NP_057465.1:p.Thr104=
NM_033629.4:c.146_148delinsCCT (TREX1)	NP_338599.1:p.Thr49=
NM_007248.4:c.116_118delinsCCT (TREX1)	NP_009179.2:p.Thr39=
NM_033629.5:c.146_148delinsCCT (TREX1)	NP_338599.1:p.Thr49=
NR_153405.1:n.3455_3457delinsCCT
NM_033629.6:c.146_148delinsCCT (TREX1) MANE Select	NP_338599.1:p.Thr49=
NM_130384.3:c.*1247_*1249delinsCCT (ATRIP) MANE Select	NP_569055.1:n.*1247_*1249delinsCCT
NM_001271023.2:c.*1247_*1249delinsCCT (ATRIP)	NP_001257952.1:n.*1247_*1249delinsCCT
NM_007248.5:c.116_118delinsCCT (TREX1)	NP_009179.2:p.Thr39=
NM_032166.4:c.*1247_*1249delinsCCT (ATRIP)	NP_115542.2:n.*1247_*1249delinsCCT
NM_001271022.2:c.*1247_*1249delinsCCT (ATRIP)	NP_001257951.1:n.*1247_*1249delinsCCT