Canonical Allele Identifier: CA2756154139

Gene: ATRIP TREX1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48466805_48466806dup , CM000665.2:g.48466805_48466806dup	GRCh38
NC_000003.11:g.48508204_48508205dup , CM000665.1:g.48508204_48508205dup	GRCh37
NC_000003.10:g.48483208_48483209dup	NCBI36
NG_009820.1:g.5976_5977dup
NG_033100.1:g.39058_39059dup
NG_041782.1:g.25096_25097dup
NG_009820.2:g.5976_5977dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1251_*1252dup (ATRIP) MANE Select	ENSP00000323099.3:n.*1251_*1252dup
ENST00000492235.2:c.-268_-267dup (TREX1)	ENSP00000494511.1:n.-268_-267dup
ENST00000625293.3:c.150_151dup (TREX1) MANE Select	ENSP00000486676.2:p.Gln51LeufsTer15
ENST00000634384.2:c.2745_2746dup (ATRIP)
ENST00000635452.2:c.-268_-267dup (TREX1)	ENSP00000492023.2:n.-268_-267dup
ENST00000296443.11:c.150_151dup	ENSP00000296443.11:p.Gln51LeufsTer15
ENST00000433541.1:c.-268_-267dup (TREX1)	ENSP00000412404.1:n.-268_-267dup
ENST00000444177.1:c.120_121dup (TREX1)	ENSP00000415972.1:p.Gln41LeufsTer15
ENST00000456089.1:c.-8-260_-8-259dup (TREX1)	ENSP00000411331.1:n.-8-260_-8-259dup
ENST00000492235.1:n.68_69dup (TREX1)
ENST00000625293.1:c.315_316dup (TREX1)	ENSP00000486676.1:p.Gln106LeufsTer15
ENST00000629913.1:c.150_151dup (TREX1)	ENSP00000486444.1:p.Gln51LeufsTer15
ENST00000634384.1:c.*2970_*2971dup	ENSP00000489041.1:n.*2970_*2971dup
ENST00000635452.1:n.1357_1358dup
ENST00000635464.1:c.3103_3104dup	ENSP00000489199.1:n.3103_3104dup
NM_007248.3:c.120_121dup (TREX1)	NP_009179.2:p.Gln41LeufsTer15
NM_016381.5:c.315_316dup (TREX1)	NP_057465.1:p.Gln106LeufsTer15
NM_033629.4:c.150_151dup (TREX1)	NP_338599.1:p.Gln51LeufsTer15
NM_007248.4:c.120_121dup (TREX1)	NP_009179.2:p.Gln41LeufsTer15
NM_033629.5:c.150_151dup (TREX1)	NP_338599.1:p.Gln51LeufsTer15
NR_153405.1:n.3459_3460dup
NM_033629.6:c.150_151dup (TREX1) MANE Select	NP_338599.1:p.Gln51LeufsTer15
NM_130384.3:c.*1251_*1252dup (ATRIP) MANE Select	NP_569055.1:n.*1251_*1252dup
NM_001271023.2:c.*1251_*1252dup (ATRIP)	NP_001257952.1:n.*1251_*1252dup
NM_007248.5:c.120_121dup (TREX1)	NP_009179.2:p.Gln41LeufsTer15
NM_032166.4:c.*1251_*1252dup (ATRIP)	NP_115542.2:n.*1251_*1252dup
NM_001271022.2:c.*1251_*1252dup (ATRIP)	NP_001257951.1:n.*1251_*1252dup