Canonical Allele Identifier: CA2376751

Gene: ATRIP TREX1

Linked Data

• ClinVar Variation Id: 1508039
• ClinVar RCV Id: RCV002040314
• dbSNP Id: rs778550314
• ExAC: 3:48508964 CTGTA / C
• gnomAD v2: 3-48508964-CTGTA-C
• gnomAD v4: 3-48467565-CTGTA-C
• MyVariant Identifiers: chr3:g.48508965_48508968del (hg19) ; chr3:g.48467566_48467569del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467568_48467571del , CM000665.2:g.48467568_48467571del	GRCh38
NC_000003.11:g.48508967_48508970del , CM000665.1:g.48508967_48508970del	GRCh37
NC_000003.10:g.48483971_48483974del	NCBI36
NG_009820.1:g.6739_6742del
NG_033100.1:g.38292_38295del
NG_041782.1:g.25859_25862del
NG_009820.2:g.6739_6742del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*2014_*2017del (ATRIP) MANE Select	ENSP00000323099.3:n.*2014_*2017del
ENST00000492235.2:c.496_499del (TREX1)	ENSP00000494511.1:p.Tyr166AspfsTer16
ENST00000625293.3:c.913_916del (TREX1) MANE Select	ENSP00000486676.2:p.Tyr305AspfsTer16
ENST00000634384.2:c.3508_3511del (ATRIP)
ENST00000635452.2:c.496_499del (TREX1)	ENSP00000492023.2:p.Tyr166AspfsTer16
ENST00000296443.11:c.913_916del	ENSP00000296443.11:p.Tyr305AspfsTer16
ENST00000433541.1:c.496_499del (TREX1)	ENSP00000412404.1:p.Tyr166AspfsTer16
ENST00000444177.1:c.883_886del (TREX1)	ENSP00000415972.1:p.Tyr295AspfsTer16
ENST00000456089.1:c.496_499del (TREX1)	ENSP00000411331.1:p.Tyr166AspfsTer16
ENST00000625293.1:c.1078_1081del (TREX1)	ENSP00000486676.1:p.Tyr360AspfsTer16
ENST00000629913.1:c.913_916del (TREX1)	ENSP00000486444.1:p.Tyr305AspfsTer?
ENST00000634384.1:c.*3733_*3736del	ENSP00000489041.1:n.*3733_*3736del
ENST00000635452.1:n.2120_2123del
ENST00000635464.1:c.3866_3869del	ENSP00000489199.1:n.3866_3869del
NM_007248.3:c.883_886del (TREX1)	NP_009179.2:p.Tyr295AspfsTer16
NM_016381.5:c.1078_1081del (TREX1)	NP_057465.1:p.Tyr360AspfsTer16
NM_033629.4:c.913_916del (TREX1)	NP_338599.1:p.Tyr305AspfsTer16
NM_007248.4:c.883_886del (TREX1)	NP_009179.2:p.Tyr295AspfsTer16
NM_033629.5:c.913_916del (TREX1)	NP_338599.1:p.Tyr305AspfsTer16
NR_153405.1:n.4222_4225del
NM_033629.6:c.913_916del (TREX1) MANE Select	NP_338599.1:p.Tyr305AspfsTer16
NM_130384.3:c.*2014_*2017del (ATRIP) MANE Select	NP_569055.1:n.*2014_*2017del
NM_001271023.2:c.*2014_*2017del (ATRIP)	NP_001257952.1:n.*2014_*2017del
NM_007248.5:c.883_886del (TREX1)	NP_009179.2:p.Tyr295AspfsTer16
NM_032166.4:c.*2014_*2017del (ATRIP)	NP_115542.2:n.*2014_*2017del
NM_001271022.2:c.*2014_*2017del (ATRIP)	NP_001257951.1:n.*2014_*2017del