Canonical Allele Identifier: CA2665603329

Gene: ATRIP TREX1

Linked Data

• gnomAD v4: 3-48467567-GTATGGACTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467569_48467577del , CM000665.2:g.48467569_48467577del	GRCh38
NC_000003.11:g.48508968_48508976del , CM000665.1:g.48508968_48508976del	GRCh37
NC_000003.10:g.48483972_48483980del	NCBI36
NG_009820.1:g.6740_6748del
NG_033100.1:g.38285_38293del
NG_041782.1:g.25860_25868del
NG_009820.2:g.6740_6748del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*2015_*2023del (ATRIP) MANE Select	ENSP00000323099.3:n.*2015_*2023del
ENST00000492235.2:c.497_505del (TREX1)	ENSP00000494511.1:p.Tyr166_Leu168del
ENST00000625293.3:c.914_922del (TREX1) MANE Select	ENSP00000486676.2:p.Tyr305_Leu307del
ENST00000634384.2:c.3509_3517del (ATRIP)
ENST00000635452.2:c.497_505del (TREX1)	ENSP00000492023.2:p.Tyr166_Leu168del
ENST00000296443.11:c.914_922del	ENSP00000296443.11:p.Tyr305_Leu307del
ENST00000433541.1:c.497_505del (TREX1)	ENSP00000412404.1:p.Tyr166_Leu168del
ENST00000444177.1:c.884_892del (TREX1)	ENSP00000415972.1:p.Tyr295_Leu297del
ENST00000456089.1:c.497_505del (TREX1)	ENSP00000411331.1:p.Tyr166_Leu168del
ENST00000625293.1:c.1079_1087del (TREX1)	ENSP00000486676.1:p.Tyr360_Leu362del
ENST00000629913.1:c.914_922del (TREX1)	ENSP00000486444.1:p.Tyr305_Leu307del
ENST00000634384.1:c.*3734_*3742del	ENSP00000489041.1:n.*3734_*3742del
ENST00000635452.1:n.2121_2129del
ENST00000635464.1:c.3867_3875del	ENSP00000489199.1:n.3867_3875del
NM_007248.3:c.884_892del (TREX1)	NP_009179.2:p.Tyr295_Leu297del
NM_016381.5:c.1079_1087del (TREX1)	NP_057465.1:p.Tyr360_Leu362del
NM_033629.4:c.914_922del (TREX1)	NP_338599.1:p.Tyr305_Leu307del
NM_007248.4:c.884_892del (TREX1)	NP_009179.2:p.Tyr295_Leu297del
NM_033629.5:c.914_922del (TREX1)	NP_338599.1:p.Tyr305_Leu307del
NR_153405.1:n.4223_4231del
NM_033629.6:c.914_922del (TREX1) MANE Select	NP_338599.1:p.Tyr305_Leu307del
NM_130384.3:c.*2015_*2023del (ATRIP) MANE Select	NP_569055.1:n.*2015_*2023del
NM_001271023.2:c.*2015_*2023del (ATRIP)	NP_001257952.1:n.*2015_*2023del
NM_007248.5:c.884_892del (TREX1)	NP_009179.2:p.Tyr295_Leu297del
NM_032166.4:c.*2015_*2023del (ATRIP)	NP_115542.2:n.*2015_*2023del
NM_001271022.2:c.*2015_*2023del (ATRIP)	NP_001257951.1:n.*2015_*2023del