Canonical Allele Identifier: CA2573054518

Gene: TBX4

Linked Data

• ClinVar Variation Id: 1341436
• ClinVar RCV Id: RCV001829350
• dbSNP Id: rs2143792571
• gnomAD v4: 17-61456633-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456636del , CM000679.2:g.61456636del	GRCh38
NC_000017.10:g.59533997del , CM000679.1:g.59533997del	GRCh37
NC_000017.9:g.56888779del	NCBI36
NG_008080.1:g.5191del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642491.1:c.146del	ENSP00000495714.1:p.Gly49AspfsTer?
ENST00000644296.1:c.146del MANE Select	ENSP00000495986.1:p.Gly49AspfsTer?
ENST00000240335.1:c.146del	ENSP00000240335.1:p.Gly49AspfsTer?
ENST00000393853.8:c.146del	ENSP00000377435.3:p.Gly49AspfsTer?
ENST00000589003.5:c.-113del	ENSP00000467588.1:n.-113del
NM_018488.2:c.146del	NP_060958.2:p.Gly49AspfsTer?
XM_005257835.3:c.146del	XP_005257892.2:p.Gly49AspfsTer?
XM_005257837.2:c.146del	XP_005257894.1:p.Gly49AspfsTer?
XM_011525490.1:c.335del	XP_011523792.1:p.Gly112AspfsTer?
XM_011525491.1:c.335del	XP_011523793.1:p.Gly112AspfsTer?
XM_011525492.1:c.146del	XP_011523794.1:p.Gly49AspfsTer?
XM_011525493.1:c.146del	XP_011523795.1:p.Gly49AspfsTer?
XM_011525494.1:c.146del	XP_011523796.1:p.Gly49AspfsTer?
XM_011525495.1:c.335del	XP_011523797.1:p.Gly112AspfsTer?
NM_001321120.2:c.146del MANE Select	NP_001308049.1:p.Gly49AspfsTer?
NM_018488.3:c.146del	NP_060958.2:p.Gly49AspfsTer?
XM_011525490.2:c.335del	XP_011523792.1:p.Gly112AspfsTer?
XM_011525491.2:c.335del	XP_011523793.1:p.Gly112AspfsTer?
XM_011525495.2:c.335del	XP_011523797.1:p.Gly112AspfsTer?