Canonical Allele Identifier: CA16603272
Gene: TBX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 377113
ClinVar RCV Id: RCV000443799 RCV000460311
dbSNP Id: rs1057520136
MyVariant Identifiers: chr12:g.114836432del (hg19) chr12:g.114398627del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114398627del , CM000674.2:g.114398627del GRCh38
NC_000012.11:g.114836432del , CM000674.1:g.114836432del GRCh37
NC_000012.10:g.113320815del NCBI36
NG_007373.1:g.14816del , LRG_670:g.14816del

Transcript Alleles

HGVS Amino-acid change
ENST00000405440.7:c.456del MANE Select ENSP00000384152.3:p.Val153SerfsTer21
ENST00000310346.8:c.456del ENSP00000309913.4:p.Val153SerfsTer21
ENST00000349716.9:c.306del ENSP00000337723.5:p.Val103SerfsTer21
ENST00000405440.6:c.456del ENSP00000384152.2:p.Val153SerfsTer21
ENST00000526441.1:c.456del ENSP00000433292.1:p.Val153SerfsTer21
ENST00000552726.1:n.507del
NM_000192.3:c.456del , LRG_670t1:c.456del NP_000183.2:p.Val153SerfsTer21
NM_080717.2:c.306del NP_542448.1:p.Val103SerfsTer21
NM_181486.2:c.456del NP_852259.1:p.Val153SerfsTer21
XM_017019912.1:c.504del XP_016875401.1:p.Val169SerfsTer21
NM_080717.3:c.306del NP_542448.1:p.Val103SerfsTer21
NM_181486.4:c.456del MANE Select NP_852259.1:p.Val153SerfsTer21
NM_080717.4:c.306del NP_542448.1:p.Val103SerfsTer21
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