Canonical Allele Identifier: CA1363031427

Gene: ATRIP TREX1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467560_48467562delinsCCA , CM000665.2:g.48467560_48467562delinsCCA	GRCh38
NC_000003.11:g.48508959_48508961delinsCCA , CM000665.1:g.48508959_48508961delinsCCA	GRCh37
NC_000003.10:g.48483963_48483965delinsCCA	NCBI36
NG_009820.1:g.6731_6733delinsCCA
NG_033100.1:g.38299_38301delinsTGG
NG_041782.1:g.25851_25853delinsCCA
NG_009820.2:g.6731_6733delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*2006_*2008delinsCCA (ATRIP) MANE Select	ENSP00000323099.3:n.*2006_*2008delinsCCA
ENST00000492235.2:c.488_490delinsCCA (TREX1)	ENSP00000494511.1:p.Ala163=
ENST00000625293.3:c.905_907delinsCCA (TREX1) MANE Select	ENSP00000486676.2:p.Ala302=
ENST00000634384.2:c.3500_3502delinsCCA (ATRIP)
ENST00000635452.2:c.488_490delinsCCA (TREX1)	ENSP00000492023.2:p.Ala163=
ENST00000296443.11:c.905_907delinsCCA	ENSP00000296443.11:p.Ala302=
ENST00000433541.1:c.488_490delinsCCA (TREX1)	ENSP00000412404.1:p.Ala163=
ENST00000444177.1:c.875_877delinsCCA (TREX1)	ENSP00000415972.1:p.Ala292=
ENST00000456089.1:c.488_490delinsCCA (TREX1)	ENSP00000411331.1:p.Ala163=
ENST00000625293.1:c.1070_1072delinsCCA (TREX1)	ENSP00000486676.1:p.Ala357=
ENST00000629913.1:c.905_907delinsCCA (TREX1)	ENSP00000486444.1:p.Ala302=
ENST00000634384.1:c.*3725_*3727delinsCCA	ENSP00000489041.1:n.*3725_*3727delinsCCA
ENST00000635452.1:n.2112_2114delinsCCA
ENST00000635464.1:c.3858_3860delinsCCA	ENSP00000489199.1:n.3858_3860delinsCCA
NM_007248.3:c.875_877delinsCCA (TREX1)	NP_009179.2:p.Ala292=
NM_016381.5:c.1070_1072delinsCCA (TREX1)	NP_057465.1:p.Ala357=
NM_033629.4:c.905_907delinsCCA (TREX1)	NP_338599.1:p.Ala302=
NM_007248.4:c.875_877delinsCCA (TREX1)	NP_009179.2:p.Ala292=
NM_033629.5:c.905_907delinsCCA (TREX1)	NP_338599.1:p.Ala302=
NR_153405.1:n.4214_4216delinsCCA
NM_033629.6:c.905_907delinsCCA (TREX1) MANE Select	NP_338599.1:p.Ala302=
NM_130384.3:c.*2006_*2008delinsCCA (ATRIP) MANE Select	NP_569055.1:n.*2006_*2008delinsCCA
NM_001271023.2:c.*2006_*2008delinsCCA (ATRIP)	NP_001257952.1:n.*2006_*2008delinsCCA
NM_007248.5:c.875_877delinsCCA (TREX1)	NP_009179.2:p.Ala292=
NM_032166.4:c.*2006_*2008delinsCCA (ATRIP)	NP_115542.2:n.*2006_*2008delinsCCA
NM_001271022.2:c.*2006_*2008delinsCCA (ATRIP)	NP_001257951.1:n.*2006_*2008delinsCCA