Canonical Allele Identifier: CA2269031374
Gene: TBX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61456654_61456660delinsTCGCCGC , CM000679.2:g.61456654_61456660delinsTCGCCGC GRCh38
NC_000017.10:g.59534015_59534021delinsTCGCCGC , CM000679.1:g.59534015_59534021delinsTCGCCGC GRCh37
NC_000017.9:g.56888797_56888803delinsTCGCCGC NCBI36
NG_008080.1:g.5209_5215delinsTCGCCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000642491.1:c.164_170delinsTCGCCGC ENSP00000495714.1:p.Val55=
ENST00000644296.1:c.164_170delinsTCGCCGC MANE Select ENSP00000495986.1:p.Val55=
ENST00000240335.1:c.164_170delinsTCGCCGC ENSP00000240335.1:p.Val55=
ENST00000393853.8:c.164_170delinsTCGCCGC ENSP00000377435.3:p.Val55=
ENST00000589003.5:c.-95_-89delinsTCGCCGC ENSP00000467588.1:n.-95_-89delinsTCGCCGC
NM_018488.2:c.164_170delinsTCGCCGC NP_060958.2:p.Val55=
XM_005257835.3:c.164_170delinsTCGCCGC XP_005257892.2:p.Val55=
XM_005257837.2:c.164_170delinsTCGCCGC XP_005257894.1:p.Val55=
XM_011525490.1:c.353_359delinsTCGCCGC XP_011523792.1:p.Val118=
XM_011525491.1:c.353_359delinsTCGCCGC XP_011523793.1:p.Val118=
XM_011525492.1:c.164_170delinsTCGCCGC XP_011523794.1:p.Val55=
XM_011525493.1:c.164_170delinsTCGCCGC XP_011523795.1:p.Val55=
XM_011525494.1:c.164_170delinsTCGCCGC XP_011523796.1:p.Val55=
XM_011525495.1:c.353_359delinsTCGCCGC XP_011523797.1:p.Val118=
NM_001321120.2:c.164_170delinsTCGCCGC MANE Select NP_001308049.1:p.Val55=
NM_018488.3:c.164_170delinsTCGCCGC NP_060958.2:p.Val55=
XM_011525490.2:c.353_359delinsTCGCCGC XP_011523792.1:p.Val118=
XM_011525491.2:c.353_359delinsTCGCCGC XP_011523793.1:p.Val118=
XM_011525495.2:c.353_359delinsTCGCCGC XP_011523797.1:p.Val118=