Canonical Allele Identifier: CA1422663117

Gene: TBL1XR1 TBL1XR1-AS1

Linked Data

• ClinVar Variation Id: 983039
• ClinVar RCV Id: RCV001262855
• dbSNP Id: rs1715100386

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.177038343_177038346del , CM000665.2:g.177038343_177038346del	GRCh38
NC_000003.11:g.176756131_176756134del , CM000665.1:g.176756131_176756134del	GRCh37
NC_000003.10:g.178238825_178238828del	NCBI36
NG_047195.1:g.163919_163922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422066.6:c.1018_1021del (TBL1XR1)	ENSP00000398477.2:p.Arg340LeufsTer12
ENST00000431421.6:c.757_760del (TBL1XR1)	ENSP00000402402.2:p.Arg253LeufsTer12
ENST00000704383.1:c.1018_1021del (TBL1XR1)	ENSP00000515885.1:p.Arg340LeufsTer12
ENST00000704384.1:c.1018_1021del (TBL1XR1)	ENSP00000515886.1:p.Arg340LeufsTer12
ENST00000704385.1:c.1018_1021del (TBL1XR1)	ENSP00000515887.1:p.Arg340LeufsTer12
ENST00000352800.10:c.1018_1021del (TBL1XR1)	ENSP00000263964.11:p.Arg340LeufsTer12
ENST00000422442.6:c.1018_1021del (TBL1XR1)	ENSP00000387849.3:p.Arg340LeufsTer12
ENST00000457928.7:c.1018_1021del (TBL1XR1) MANE Select	ENSP00000413251.3:p.Arg340LeufsTer12
ENST00000636864.1:n.203_206del (TBL1XR1)
ENST00000637659.1:c.617_620del (TBL1XR1)
ENST00000673974.1:c.1018_1021del (TBL1XR1)	ENSP00000501274.1:p.Arg340LeufsTer12
ENST00000430069.5:c.1018_1021del (TBL1XR1)	ENSP00000405574.1:p.Arg340LeufsTer12
ENST00000457928.6:c.1018_1021del (TBL1XR1)	ENSP00000413251.2:p.Arg340LeufsTer12
ENST00000631253.2:c.1018_1021del (TBL1XR1)	ENSP00000486324.1:p.Arg340LeufsTer12
NM_024665.4:c.1018_1021del (TBL1XR1)	NP_078941.2:p.Arg340LeufsTer12
XM_005247771.2:c.1048_1051del (TBL1XR1)	XP_005247828.1:p.Arg350LeufsTer12
XM_005247772.1:c.1018_1021del (TBL1XR1)	XP_005247829.1:p.Arg340LeufsTer12
XM_005247775.1:c.1018_1021del (TBL1XR1)	XP_005247832.1:p.Arg340LeufsTer12
XM_005247776.1:c.757_760del (TBL1XR1)	XP_005247833.1:p.Arg253LeufsTer12
XM_006713745.1:c.1018_1021del (TBL1XR1)	XP_006713808.1:p.Arg340LeufsTer12
XM_006713746.1:c.1018_1021del (TBL1XR1)	XP_006713809.1:p.Arg340LeufsTer12
XM_011513140.1:c.1057_1060del (TBL1XR1)	XP_011511442.1:p.Arg353LeufsTer12
XM_011513141.1:c.1018_1021del (TBL1XR1)	XP_011511443.1:p.Arg340LeufsTer12
XM_011513142.1:c.1018_1021del (TBL1XR1)	XP_011511444.1:p.Arg340LeufsTer12
XM_011513143.1:c.1018_1021del (TBL1XR1)	XP_011511445.1:p.Arg340LeufsTer12
NM_001321193.1:c.1018_1021del (TBL1XR1)	NP_001308122.1:p.Arg340LeufsTer12
NM_001321194.1:c.1018_1021del (TBL1XR1)	NP_001308123.1:p.Arg340LeufsTer12
NM_001321195.1:c.757_760del (TBL1XR1)	NP_001308124.1:p.Arg253LeufsTer12
NM_024665.5:c.1018_1021del (TBL1XR1)	NP_078941.2:p.Arg340LeufsTer12
XM_005247775.2:c.1018_1021del (TBL1XR1)	XP_005247832.1:p.Arg340LeufsTer12
XM_011513142.2:c.1018_1021del (TBL1XR1)	XP_011511444.1:p.Arg340LeufsTer12
XM_011513143.2:c.1018_1021del (TBL1XR1)	XP_011511445.1:p.Arg340LeufsTer12
XM_017007185.1:c.1018_1021del (TBL1XR1)	XP_016862674.1:p.Arg340LeufsTer12
XM_024453751.1:c.1018_1021del (TBL1XR1)	XP_024309519.1:p.Arg340LeufsTer12
XM_024453752.1:c.1018_1021del (TBL1XR1)	XP_024309520.1:p.Arg340LeufsTer12
NM_001321193.3:c.1018_1021del (TBL1XR1)	NP_001308122.1:p.Arg340LeufsTer12
NM_001321194.3:c.1018_1021del (TBL1XR1)	NP_001308123.1:p.Arg340LeufsTer12
NM_001321195.3:c.757_760del (TBL1XR1)	NP_001308124.1:p.Arg253LeufsTer12
NM_001374327.1:c.1018_1021del (TBL1XR1)	NP_001361256.1:p.Arg340LeufsTer12
NM_001374328.1:c.1018_1021del (TBL1XR1)	NP_001361257.1:p.Arg340LeufsTer12
NM_001374329.1:c.1018_1021del (TBL1XR1)	NP_001361258.1:p.Arg340LeufsTer12
NM_001374330.1:c.757_760del (TBL1XR1)	NP_001361259.1:p.Arg253LeufsTer12
NM_024665.7:c.1018_1021del (TBL1XR1) MANE Select	NP_078941.2:p.Arg340LeufsTer12
NR_174966.1:n.341-19_341-16del (TBL1XR1-AS1)