Allele Registry

Canonical Allele Identifier: CA322053

Gene: TBX5 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr12:g.114394793dupT

GRCh38 chr12:g.114394792_114394793insT

GRCh37 chr12:g.114832598dupT

GRCh37 chr12:g.114832597_114832598insT

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000197595

RCV002517187

ClinVar Variation:

213830

dbSNP:

863223786

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114394793dup , CM000674.2:g.114394793dup	GRCh38
NC_000012.11:g.114832598dup , CM000674.1:g.114832598dup	GRCh37
NC_000012.10:g.113316981dup	NCBI36
NG_007373.1:g.18650dup , LRG_670:g.18650dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.611dup MANE Select	ENSP00000384152.3:p.His204GlnfsTer5
ENST00000310346.8:c.611dup	ENSP00000309913.4:p.His204GlnfsTer5
ENST00000349716.9:c.461dup	ENSP00000337723.5:p.His154GlnfsTer5
ENST00000405440.6:c.611dup	ENSP00000384152.2:p.His204GlnfsTer5
ENST00000526441.1:c.611dup	ENSP00000433292.1:p.His204GlnfsTer5
NM_000192.3:c.611dup , LRG_670t1:c.611dup	NP_000183.2:p.His204GlnfsTer5
NM_080717.2:c.461dup	NP_542448.1:p.His154GlnfsTer5
NM_181486.2:c.611dup	NP_852259.1:p.His204GlnfsTer5
XM_017019912.1:c.659dup	XP_016875401.1:p.His220GlnfsTer5
NM_080717.3:c.461dup	NP_542448.1:p.His154GlnfsTer5
NM_181486.4:c.611dup MANE Select	NP_852259.1:p.His204GlnfsTer5
NM_080717.4:c.461dup	NP_542448.1:p.His154GlnfsTer5

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