Canonical Allele Identifier: CA2586972151

Gene: ATRIP TREX1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467397_48467400dup , CM000665.2:g.48467397_48467400dup	GRCh38
NC_000003.11:g.48508796_48508799dup , CM000665.1:g.48508796_48508799dup	GRCh37
NC_000003.10:g.48483800_48483803dup	NCBI36
NG_009820.1:g.6568_6571dup
NG_033100.1:g.38461_38464dup
NG_041782.1:g.25688_25691dup
NG_009820.2:g.6568_6571dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1843_*1846dup (ATRIP) MANE Select	ENSP00000323099.3:n.*1843_*1846dup
ENST00000492235.2:c.325_328dup (TREX1)	ENSP00000494511.1:p.Thr110SerfsTer14
ENST00000625293.3:c.742_745dup (TREX1) MANE Select	ENSP00000486676.2:p.Thr249SerfsTer14
ENST00000634384.2:c.3337_3340dup (ATRIP)
ENST00000635452.2:c.325_328dup (TREX1)	ENSP00000492023.2:p.Thr110SerfsTer14
ENST00000296443.11:c.742_745dup	ENSP00000296443.11:p.Thr249SerfsTer14
ENST00000433541.1:c.325_328dup (TREX1)	ENSP00000412404.1:p.Thr110SerfsTer14
ENST00000444177.1:c.712_715dup (TREX1)	ENSP00000415972.1:p.Thr239SerfsTer14
ENST00000456089.1:c.325_328dup (TREX1)	ENSP00000411331.1:p.Thr110SerfsTer14
ENST00000492235.1:n.660_663dup (TREX1)
ENST00000625293.1:c.907_910dup (TREX1)	ENSP00000486676.1:p.Thr304SerfsTer14
ENST00000629913.1:c.742_745dup (TREX1)	ENSP00000486444.1:p.Thr249SerfsTer14
ENST00000634384.1:c.*3562_*3565dup	ENSP00000489041.1:n.*3562_*3565dup
ENST00000635452.1:n.1949_1952dup
ENST00000635464.1:c.3695_3698dup	ENSP00000489199.1:n.3695_3698dup
NM_007248.3:c.712_715dup (TREX1)	NP_009179.2:p.Thr239SerfsTer14
NM_016381.5:c.907_910dup (TREX1)	NP_057465.1:p.Thr304SerfsTer14
NM_033629.4:c.742_745dup (TREX1)	NP_338599.1:p.Thr249SerfsTer14
NM_007248.4:c.712_715dup (TREX1)	NP_009179.2:p.Thr239SerfsTer14
NM_033629.5:c.742_745dup (TREX1)	NP_338599.1:p.Thr249SerfsTer14
NR_153405.1:n.4051_4054dup
NM_033629.6:c.742_745dup (TREX1) MANE Select	NP_338599.1:p.Thr249SerfsTer14
NM_130384.3:c.*1843_*1846dup (ATRIP) MANE Select	NP_569055.1:n.*1843_*1846dup
NM_001271023.2:c.*1843_*1846dup (ATRIP)	NP_001257952.1:n.*1843_*1846dup
NM_007248.5:c.712_715dup (TREX1)	NP_009179.2:p.Thr239SerfsTer14
NM_032166.4:c.*1843_*1846dup (ATRIP)	NP_115542.2:n.*1843_*1846dup
NM_001271022.2:c.*1843_*1846dup (ATRIP)	NP_001257951.1:n.*1843_*1846dup