Canonical Allele Identifier: CA319857
Gene: TBX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 213826
ClinVar RCV Id: RCV000195513
dbSNP Id: rs863223782
MyVariant Identifiers: chr12:g.114836486_114836512del (hg19) chr12:g.114398681_114398707del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114398683_114398709del , CM000674.2:g.114398683_114398709del GRCh38
NC_000012.11:g.114836488_114836514del , CM000674.1:g.114836488_114836514del GRCh37
NC_000012.10:g.113320871_113320897del NCBI36
NG_007373.1:g.14736_14762del , LRG_670:g.14736_14762del

Transcript Alleles

HGVS Amino-acid change
ENST00000405440.7:c.376_402del MANE Select ENSP00000384152.3:p.Lys126_Arg134del
ENST00000310346.8:c.376_402del ENSP00000309913.4:p.Lys126_Arg134del
ENST00000349716.9:c.226_252del ENSP00000337723.5:p.Lys76_Arg84del
ENST00000405440.6:c.376_402del ENSP00000384152.2:p.Lys126_Arg134del
ENST00000526441.1:c.376_402del ENSP00000433292.1:p.Lys126_Arg134del
ENST00000552726.1:n.427_453del
NM_000192.3:c.376_402del , LRG_670t1:c.376_402del NP_000183.2:p.Lys126_Arg134del
NM_080717.2:c.226_252del NP_542448.1:p.Lys76_Arg84del
NM_181486.2:c.376_402del NP_852259.1:p.Lys126_Arg134del
XM_017019912.1:c.424_450del XP_016875401.1:p.Lys142_Arg150del
NM_080717.3:c.226_252del NP_542448.1:p.Lys76_Arg84del
NM_181486.4:c.376_402del MANE Select NP_852259.1:p.Lys126_Arg134del
NM_080717.4:c.226_252del NP_542448.1:p.Lys76_Arg84del
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