Canonical Allele Identifier: CA16042786
Gene: TBX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 373079
ClinVar RCV Id: RCV000413997
dbSNP Id: rs1057518199

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114401867del , CM000674.2:g.114401867del GRCh38
NC_000012.11:g.114839672del , CM000674.1:g.114839672del GRCh37
NC_000012.10:g.113324055del NCBI36
NG_007373.1:g.11577del , LRG_670:g.11577del

Transcript Alleles

HGVS Amino-acid change
ENST00000405440.7:c.202del MANE Select ENSP00000384152.3:p.His68ThrfsTer7
ENST00000310346.8:c.202del ENSP00000309913.4:p.His68ThrfsTer7
ENST00000349716.9:c.52del ENSP00000337723.5:p.His18ThrfsTer7
ENST00000405440.6:c.202del ENSP00000384152.2:p.His68ThrfsTer7
ENST00000526441.1:c.202del ENSP00000433292.1:p.His68ThrfsTer7
ENST00000552726.1:n.253del
NM_000192.3:c.202del , LRG_670t1:c.202del NP_000183.2:p.His68ThrfsTer7
NM_080717.2:c.52del NP_542448.1:p.His18ThrfsTer7
NM_181486.2:c.202del NP_852259.1:p.His68ThrfsTer7
XM_017019912.1:c.250del XP_016875401.1:p.His84ThrfsTer7
NM_080717.3:c.52del NP_542448.1:p.His18ThrfsTer7
NM_181486.4:c.202del MANE Select NP_852259.1:p.His68ThrfsTer7
NM_080717.4:c.52del NP_542448.1:p.His18ThrfsTer7