Allele Registry

Canonical Allele Identifier: CA322170

Gene: TBX5 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr12:g.114398651_114398663del

GRCh37 chr12:g.114836456_114836468del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000197711

ClinVar Variation:

213827

dbSNP:

863223783

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398651_114398663del , CM000674.2:g.114398651_114398663del	GRCh38
NC_000012.11:g.114836456_114836468del , CM000674.1:g.114836456_114836468del	GRCh37
NC_000012.10:g.113320839_113320851del	NCBI36
NG_007373.1:g.14780_14792del , LRG_670:g.14780_14792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.420_432del MANE Select	ENSP00000384152.3:p.Asp140GlufsTer6
ENST00000310346.8:c.420_432del	ENSP00000309913.4:p.Asp140GlufsTer6
ENST00000349716.9:c.270_282del	ENSP00000337723.5:p.Asp90GlufsTer6
ENST00000405440.6:c.420_432del	ENSP00000384152.2:p.Asp140GlufsTer6
ENST00000526441.1:c.420_432del	ENSP00000433292.1:p.Asp140GlufsTer6
ENST00000552726.1:n.471_483del
NM_000192.3:c.420_432del , LRG_670t1:c.420_432del	NP_000183.2:p.Asp140GlufsTer6
NM_080717.2:c.270_282del	NP_542448.1:p.Asp90GlufsTer6
NM_181486.2:c.420_432del	NP_852259.1:p.Asp140GlufsTer6
XM_017019912.1:c.468_480del	XP_016875401.1:p.Asp156GlufsTer6
NM_080717.3:c.270_282del	NP_542448.1:p.Asp90GlufsTer6
NM_181486.4:c.420_432del MANE Select	NP_852259.1:p.Asp140GlufsTer6
NM_080717.4:c.270_282del	NP_542448.1:p.Asp90GlufsTer6

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