Canonical Allele Identifier: CA2376767

Gene: ATRIP TREX1

Linked Data

• dbSNP Id: rs774918442
• ExAC: 3:48509023 T / TAAAG
• gnomAD v2: 3-48509023-T-TAAAG
• gnomAD v4: 3-48467624-T-TAAAG
• MyVariant Identifiers: chr3:g.48509023_48509024insAAAG (hg19) ; chr3:g.48467624_48467625insAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467626_48467629dup , CM000665.2:g.48467626_48467629dup	GRCh38
NC_000003.11:g.48509025_48509028dup , CM000665.1:g.48509025_48509028dup	GRCh37
NC_000003.10:g.48484029_48484032dup	NCBI36
NG_009820.1:g.6797_6800dup
NG_033100.1:g.38233_38236dup
NG_041782.1:g.25917_25920dup
NG_009820.2:g.6797_6800dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*2072_*2075dup (ATRIP) MANE Select	ENSP00000323099.3:n.*2072_*2075dup
ENST00000492235.2:c.*26_*29dup (TREX1)	ENSP00000494511.1:n.*26_*29dup
ENST00000625293.3:c.*26_*29dup (TREX1) MANE Select	ENSP00000486676.2:n.*26_*29dup
ENST00000634384.2:c.3566_3569dup (ATRIP)
ENST00000635452.2:c.*26_*29dup (TREX1)	ENSP00000492023.2:n.*26_*29dup
ENST00000296443.11:c.*26_*29dup	ENSP00000296443.11:n.*26_*29dup
ENST00000433541.1:c.*26_*29dup (TREX1)	ENSP00000412404.1:n.*26_*29dup
ENST00000444177.1:c.*26_*29dup (TREX1)	ENSP00000415972.1:n.*26_*29dup
ENST00000456089.1:c.*26_*29dup (TREX1)	ENSP00000411331.1:n.*26_*29dup
ENST00000625293.1:c.*26_*29dup (TREX1)	ENSP00000486676.1:n.*26_*29dup
ENST00000634384.1:c.*3791_*3794dup	ENSP00000489041.1:n.*3791_*3794dup
ENST00000635452.1:n.2178_2181dup
ENST00000635464.1:c.3924_3927dup	ENSP00000489199.1:n.3924_3927dup
NM_007248.3:c.*26_*29dup (TREX1)	NP_009179.2:n.*26_*29dup
NM_016381.5:c.*26_*29dup (TREX1)	NP_057465.1:n.*26_*29dup
NM_033629.4:c.*26_*29dup (TREX1)	NP_338599.1:n.*26_*29dup
NM_007248.4:c.*26_*29dup (TREX1)	NP_009179.2:n.*26_*29dup
NM_033629.5:c.*26_*29dup (TREX1)	NP_338599.1:n.*26_*29dup
NR_153405.1:n.4280_4283dup
NM_033629.6:c.*26_*29dup (TREX1) MANE Select	NP_338599.1:n.*26_*29dup
NM_130384.3:c.*2072_*2075dup (ATRIP) MANE Select	NP_569055.1:n.*2072_*2075dup
NM_001271023.2:c.*2072_*2075dup (ATRIP)	NP_001257952.1:n.*2072_*2075dup
NM_007248.5:c.*26_*29dup (TREX1)	NP_009179.2:n.*26_*29dup
NM_032166.4:c.*2072_*2075dup (ATRIP)	NP_115542.2:n.*2072_*2075dup
NM_001271022.2:c.*2072_*2075dup (ATRIP)	NP_001257951.1:n.*2072_*2075dup