Canonical Allele Identifier: CA2064648890

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398348_114398349delinsAG , CM000674.2:g.114398348_114398349delinsAG	GRCh38
NC_000012.11:g.114836153_114836154delinsAG , CM000674.1:g.114836153_114836154delinsAG	GRCh37
NC_000012.10:g.113320536_113320537delinsAG	NCBI36
NG_007373.1:g.15094_15095delinsCT , LRG_670:g.15094_15095delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.510+224_510+225delinsCT MANE Select	ENSP00000384152.3:n.510+224_510+225delinsCT
ENST00000310346.8:c.510+224_510+225delinsCT	ENSP00000309913.4:n.510+224_510+225delinsCT
ENST00000349716.9:c.360+224_360+225delinsCT	ENSP00000337723.5:n.360+224_360+225delinsCT
ENST00000405440.6:c.510+224_510+225delinsCT	ENSP00000384152.2:n.510+224_510+225delinsCT
ENST00000526441.1:c.510+224_510+225delinsCT	ENSP00000433292.1:n.510+224_510+225delinsCT
ENST00000552726.1:n.561+224_561+225delinsCT
NM_000192.3:c.510+224_510+225delinsCT , LRG_670t1:c.510+224_510+225delinsCT	NP_000183.2:n.510+224_510+225delinsCT
NM_080717.2:c.360+224_360+225delinsCT	NP_542448.1:n.360+224_360+225delinsCT
NM_181486.2:c.510+224_510+225delinsCT	NP_852259.1:n.510+224_510+225delinsCT
XM_017019912.1:c.558+224_558+225delinsCT	XP_016875401.1:n.558+224_558+225delinsCT
NM_080717.3:c.360+224_360+225delinsCT	NP_542448.1:n.360+224_360+225delinsCT
NM_181486.4:c.510+224_510+225delinsCT MANE Select	NP_852259.1:n.510+224_510+225delinsCT
NM_080717.4:c.360+224_360+225delinsCT	NP_542448.1:n.360+224_360+225delinsCT