Canonical Allele Identifier: CA324506
Gene: TBX5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114398640_114398662delinsTCCTGG , CM000674.2:g.114398640_114398662delinsTCCTGG GRCh38
NC_000012.11:g.114836445_114836467delinsTCCTGG , CM000674.1:g.114836445_114836467delinsTCCTGG GRCh37
NC_000012.10:g.113320828_113320850delinsTCCTGG NCBI36
NG_007373.1:g.14781_14803delinsCCAGGA , LRG_670:g.14781_14803delinsCCAGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000405440.7:c.421_443delinsCCAGGA MANE Select ENSP00000384152.3:p.Ser141ProfsTer?
ENST00000310346.8:c.421_443delinsCCAGGA ENSP00000309913.4:p.Ser141ProfsTer?
ENST00000349716.9:c.271_293delinsCCAGGA ENSP00000337723.5:p.Ser91ProfsTer?
ENST00000405440.6:c.421_443delinsCCAGGA ENSP00000384152.2:p.Ser141ProfsTer?
ENST00000526441.1:c.421_443delinsCCAGGA ENSP00000433292.1:p.Ser141ProfsTer?
ENST00000552726.1:n.472_494delinsCCAGGA
NM_000192.3:c.421_443delinsCCAGGA , LRG_670t1:c.421_443delinsCCAGGA NP_000183.2:p.Ser141ProfsTer?
NM_080717.2:c.271_293delinsCCAGGA NP_542448.1:p.Ser91ProfsTer?
NM_181486.2:c.421_443delinsCCAGGA NP_852259.1:p.Ser141ProfsTer?
XM_017019912.1:c.469_491delinsCCAGGA XP_016875401.1:p.Ser157ProfsTer?
NM_080717.3:c.271_293delinsCCAGGA NP_542448.1:p.Ser91ProfsTer?
NM_181486.4:c.421_443delinsCCAGGA MANE Select NP_852259.1:p.Ser141ProfsTer?
NM_080717.4:c.271_293delinsCCAGGA NP_542448.1:p.Ser91ProfsTer?
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