Canonical Allele Identifier: CA2573054520

Gene: TBX4

Linked Data

• ClinVar Variation Id: 1341458
• ClinVar RCV Id: RCV001829372
• dbSNP Id: rs2143792619

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456643_61456671del , CM000679.2:g.61456643_61456671del	GRCh38
NC_000017.10:g.59534004_59534032del , CM000679.1:g.59534004_59534032del	GRCh37
NC_000017.9:g.56888786_56888814del	NCBI36
NG_008080.1:g.5198_5226del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642491.1:c.153_181del	ENSP00000495714.1:p.Val54HisfsTer10
ENST00000644296.1:c.153_181del MANE Select	ENSP00000495986.1:p.Val54HisfsTer10
ENST00000240335.1:c.153_181del	ENSP00000240335.1:p.Val54HisfsTer10
ENST00000393853.8:c.153_181del	ENSP00000377435.3:p.Val54HisfsTer10
ENST00000589003.5:c.-106_-78del	ENSP00000467588.1:n.-106_-78del
NM_018488.2:c.153_181del	NP_060958.2:p.Val54HisfsTer10
XM_005257835.3:c.153_181del	XP_005257892.2:p.Val54HisfsTer10
XM_005257837.2:c.153_181del	XP_005257894.1:p.Val54HisfsTer10
XM_011525490.1:c.342_370del	XP_011523792.1:p.Val117HisfsTer10
XM_011525491.1:c.342_370del	XP_011523793.1:p.Val117HisfsTer10
XM_011525492.1:c.153_181del	XP_011523794.1:p.Val54HisfsTer10
XM_011525493.1:c.153_181del	XP_011523795.1:p.Val54HisfsTer10
XM_011525494.1:c.153_181del	XP_011523796.1:p.Val54HisfsTer10
XM_011525495.1:c.342_370del	XP_011523797.1:p.Val117HisfsTer10
NM_001321120.2:c.153_181del MANE Select	NP_001308049.1:p.Val54HisfsTer10
NM_018488.3:c.153_181del	NP_060958.2:p.Val54HisfsTer10
XM_011525490.2:c.342_370del	XP_011523792.1:p.Val117HisfsTer10
XM_011525491.2:c.342_370del	XP_011523793.1:p.Val117HisfsTer10
XM_011525495.2:c.342_370del	XP_011523797.1:p.Val117HisfsTer10