Canonical Allele Identifier: CA2665603279

Gene: ATRIP TREX1

Linked Data

• gnomAD v4: 3-48467553-GCAGTAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467556_48467562del , CM000665.2:g.48467556_48467562del	GRCh38
NC_000003.11:g.48508955_48508961del , CM000665.1:g.48508955_48508961del	GRCh37
NC_000003.10:g.48483959_48483965del	NCBI36
NG_009820.1:g.6727_6733del
NG_033100.1:g.38301_38307del
NG_041782.1:g.25847_25853del
NG_009820.2:g.6727_6733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*2002_*2008del (ATRIP) MANE Select	ENSP00000323099.3:n.*2002_*2008del
ENST00000492235.2:c.484_490del (TREX1)	ENSP00000494511.1:p.Val162HisfsTer19
ENST00000625293.3:c.901_907del (TREX1) MANE Select	ENSP00000486676.2:p.Val301HisfsTer19
ENST00000634384.2:c.3496_3502del (ATRIP)
ENST00000635452.2:c.484_490del (TREX1)	ENSP00000492023.2:p.Val162HisfsTer19
ENST00000296443.11:c.901_907del	ENSP00000296443.11:p.Val301HisfsTer19
ENST00000433541.1:c.484_490del (TREX1)	ENSP00000412404.1:p.Val162HisfsTer19
ENST00000444177.1:c.871_877del (TREX1)	ENSP00000415972.1:p.Val291HisfsTer19
ENST00000456089.1:c.484_490del (TREX1)	ENSP00000411331.1:p.Val162HisfsTer19
ENST00000625293.1:c.1066_1072del (TREX1)	ENSP00000486676.1:p.Val356HisfsTer19
ENST00000629913.1:c.901_907del (TREX1)	ENSP00000486444.1:p.Val301HisfsTer?
ENST00000634384.1:c.*3721_*3727del	ENSP00000489041.1:n.*3721_*3727del
ENST00000635452.1:n.2108_2114del
ENST00000635464.1:c.3854_3860del	ENSP00000489199.1:n.3854_3860del
NM_007248.3:c.871_877del (TREX1)	NP_009179.2:p.Val291HisfsTer19
NM_016381.5:c.1066_1072del (TREX1)	NP_057465.1:p.Val356HisfsTer19
NM_033629.4:c.901_907del (TREX1)	NP_338599.1:p.Val301HisfsTer19
NM_007248.4:c.871_877del (TREX1)	NP_009179.2:p.Val291HisfsTer19
NM_033629.5:c.901_907del (TREX1)	NP_338599.1:p.Val301HisfsTer19
NR_153405.1:n.4210_4216del
NM_033629.6:c.901_907del (TREX1) MANE Select	NP_338599.1:p.Val301HisfsTer19
NM_130384.3:c.*2002_*2008del (ATRIP) MANE Select	NP_569055.1:n.*2002_*2008del
NM_001271023.2:c.*2002_*2008del (ATRIP)	NP_001257952.1:n.*2002_*2008del
NM_007248.5:c.871_877del (TREX1)	NP_009179.2:p.Val291HisfsTer19
NM_032166.4:c.*2002_*2008del (ATRIP)	NP_115542.2:n.*2002_*2008del
NM_001271022.2:c.*2002_*2008del (ATRIP)	NP_001257951.1:n.*2002_*2008del