Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467638_48467639delinsGC , CM000665.2:g.48467638_48467639delinsGC	GRCh38
NC_000003.11:g.48509037_48509038delinsGC , CM000665.1:g.48509037_48509038delinsGC	GRCh37
NC_000003.10:g.48484041_48484042delinsGC	NCBI36
NG_009820.1:g.6809_6810delinsGC
NG_033100.1:g.38222_38223delinsGC
NG_041782.1:g.25929_25930delinsGC
NG_009820.2:g.6809_6810delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.2084_2085delinsGC (ATRIP) MANE Select	ENSP00000323099.3:n.2084_2085delinsGC
ENST00000492235.2:c.38_39delinsGC (TREX1)	ENSP00000494511.1:n.38_39delinsGC
ENST00000625293.3:c.38_39delinsGC (TREX1) MANE Select	ENSP00000486676.2:n.38_39delinsGC
ENST00000634384.2:c.3578_3579delinsGC (ATRIP)
ENST00000635452.2:c.38_39delinsGC (TREX1)	ENSP00000492023.2:n.38_39delinsGC
ENST00000296443.11:c.38_39delinsGC	ENSP00000296443.11:n.38_39delinsGC
ENST00000433541.1:c.38_39delinsGC (TREX1)	ENSP00000412404.1:n.38_39delinsGC
ENST00000444177.1:c.38_39delinsGC (TREX1)	ENSP00000415972.1:n.38_39delinsGC
ENST00000456089.1:c.38_39delinsGC (TREX1)	ENSP00000411331.1:n.38_39delinsGC
ENST00000625293.1:c.38_39delinsGC (TREX1)	ENSP00000486676.1:n.38_39delinsGC
ENST00000634384.1:c.3803_3804delinsGC	ENSP00000489041.1:n.3803_3804delinsGC
ENST00000635452.1:n.2190_2191delinsGC
ENST00000635464.1:c.3936_3937delinsGC	ENSP00000489199.1:n.3936_3937delinsGC
NM_007248.3:c.38_39delinsGC (TREX1)	NP_009179.2:n.38_39delinsGC
NM_016381.5:c.38_39delinsGC (TREX1)	NP_057465.1:n.38_39delinsGC
NM_033629.4:c.38_39delinsGC (TREX1)	NP_338599.1:n.38_39delinsGC
NM_007248.4:c.38_39delinsGC (TREX1)	NP_009179.2:n.38_39delinsGC
NM_033629.5:c.38_39delinsGC (TREX1)	NP_338599.1:n.38_39delinsGC
NR_153405.1:n.4292_4293delinsGC
NM_033629.6:c.38_39delinsGC (TREX1) MANE Select	NP_338599.1:n.38_39delinsGC
NM_130384.3:c.2084_2085delinsGC (ATRIP) MANE Select	NP_569055.1:n.2084_2085delinsGC
NM_001271023.2:c.2084_2085delinsGC (ATRIP)	NP_001257952.1:n.2084_2085delinsGC
NM_007248.5:c.38_39delinsGC (TREX1)	NP_009179.2:n.38_39delinsGC
NM_032166.4:c.2084_2085delinsGC (ATRIP)	NP_115542.2:n.2084_2085delinsGC
NM_001271022.2:c.2084_2085delinsGC (ATRIP)	NP_001257951.1:n.2084_2085delinsGC

HGVS	Amino-acid Change
ENST00000320211.10:c.2084_2085delinsGC (ATRIP) MANE Select	ENSP00000323099.3:n.2084_2085delinsGC
ENST00000492235.2:c.38_39delinsGC (TREX1)	ENSP00000494511.1:n.38_39delinsGC
ENST00000625293.3:c.38_39delinsGC (TREX1) MANE Select	ENSP00000486676.2:n.38_39delinsGC
ENST00000634384.2:c.3578_3579delinsGC (ATRIP)
ENST00000635452.2:c.38_39delinsGC (TREX1)	ENSP00000492023.2:n.38_39delinsGC
ENST00000296443.11:c.38_39delinsGC	ENSP00000296443.11:n.38_39delinsGC
ENST00000433541.1:c.38_39delinsGC (TREX1)	ENSP00000412404.1:n.38_39delinsGC
ENST00000444177.1:c.38_39delinsGC (TREX1)	ENSP00000415972.1:n.38_39delinsGC
ENST00000456089.1:c.38_39delinsGC (TREX1)	ENSP00000411331.1:n.38_39delinsGC
ENST00000625293.1:c.38_39delinsGC (TREX1)	ENSP00000486676.1:n.38_39delinsGC
ENST00000634384.1:c.3803_3804delinsGC	ENSP00000489041.1:n.3803_3804delinsGC
ENST00000635452.1:n.2190_2191delinsGC
ENST00000635464.1:c.3936_3937delinsGC	ENSP00000489199.1:n.3936_3937delinsGC
NM_007248.3:c.38_39delinsGC (TREX1)	NP_009179.2:n.38_39delinsGC
NM_016381.5:c.38_39delinsGC (TREX1)	NP_057465.1:n.38_39delinsGC
NM_033629.4:c.38_39delinsGC (TREX1)	NP_338599.1:n.38_39delinsGC
NM_007248.4:c.38_39delinsGC (TREX1)	NP_009179.2:n.38_39delinsGC
NM_033629.5:c.38_39delinsGC (TREX1)	NP_338599.1:n.38_39delinsGC
NR_153405.1:n.4292_4293delinsGC
NM_033629.6:c.38_39delinsGC (TREX1) MANE Select	NP_338599.1:n.38_39delinsGC
NM_130384.3:c.2084_2085delinsGC (ATRIP) MANE Select	NP_569055.1:n.2084_2085delinsGC
NM_001271023.2:c.2084_2085delinsGC (ATRIP)	NP_001257952.1:n.2084_2085delinsGC
NM_007248.5:c.38_39delinsGC (TREX1)	NP_009179.2:n.38_39delinsGC
NM_032166.4:c.2084_2085delinsGC (ATRIP)	NP_115542.2:n.2084_2085delinsGC
NM_001271022.2:c.2084_2085delinsGC (ATRIP)	NP_001257951.1:n.2084_2085delinsGC