Canonical Allele Identifier: CA913191200

Gene: TBX5

Linked Data

• ClinVar Variation Id: 633735
• ClinVar RCV Id: RCV000782307

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398585del , CM000674.2:g.114398585del	GRCh38
NC_000012.11:g.114836390del , CM000674.1:g.114836390del	GRCh37
NC_000012.10:g.113320773del	NCBI36
NG_007373.1:g.14860del , LRG_670:g.14860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.500del MANE Select	ENSP00000384152.3:p.Pro167HisfsTer7
ENST00000310346.8:c.500del	ENSP00000309913.4:p.Pro167HisfsTer7
ENST00000349716.9:c.350del	ENSP00000337723.5:p.Pro117HisfsTer7
ENST00000405440.6:c.500del	ENSP00000384152.2:p.Pro167HisfsTer7
ENST00000526441.1:c.500del	ENSP00000433292.1:p.Pro167HisfsTer7
ENST00000552726.1:n.551del
NM_000192.3:c.500del , LRG_670t1:c.500del	NP_000183.2:p.Pro167HisfsTer7
NM_080717.2:c.350del	NP_542448.1:p.Pro117HisfsTer7
NM_181486.2:c.500del	NP_852259.1:p.Pro167HisfsTer7
XM_017019912.1:c.548del	XP_016875401.1:p.Pro183HisfsTer7
NM_080717.3:c.350del	NP_542448.1:p.Pro117HisfsTer7
NM_181486.4:c.500del MANE Select	NP_852259.1:p.Pro167HisfsTer7
NM_080717.4:c.350del	NP_542448.1:p.Pro117HisfsTer7