Canonical Allele Identifier: CA2513917430

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398366_114398367insTGGTCGCC , CM000674.2:g.114398366_114398367insTGGTCGCC	GRCh38
NC_000012.11:g.114836171_114836172insTGGTCGCC , CM000674.1:g.114836171_114836172insTGGTCGCC	GRCh37
NC_000012.10:g.113320554_113320555insTGGTCGCC	NCBI36
NG_007373.1:g.15076_15077insGGCGACCA , LRG_670:g.15076_15077insGGCGACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.510+206_510+207insGGCGACCA MANE Select	ENSP00000384152.3:n.510+206_510+207insGGCGACCA
ENST00000310346.8:c.510+206_510+207insGGCGACCA	ENSP00000309913.4:n.510+206_510+207insGGCGACCA
ENST00000349716.9:c.360+206_360+207insGGCGACCA	ENSP00000337723.5:n.360+206_360+207insGGCGACCA
ENST00000405440.6:c.510+206_510+207insGGCGACCA	ENSP00000384152.2:n.510+206_510+207insGGCGACCA
ENST00000526441.1:c.510+206_510+207insGGCGACCA	ENSP00000433292.1:n.510+206_510+207insGGCGACCA
ENST00000552726.1:n.561+206_561+207insGGCGACCA
NM_000192.3:c.510+206_510+207insGGCGACCA , LRG_670t1:c.510+206_510+207insGGCGACCA	NP_000183.2:n.510+206_510+207insGGCGACCA
NM_080717.2:c.360+206_360+207insGGCGACCA	NP_542448.1:n.360+206_360+207insGGCGACCA
NM_181486.2:c.510+206_510+207insGGCGACCA	NP_852259.1:n.510+206_510+207insGGCGACCA
XM_017019912.1:c.558+206_558+207insGGCGACCA	XP_016875401.1:n.558+206_558+207insGGCGACCA
NM_080717.3:c.360+206_360+207insGGCGACCA	NP_542448.1:n.360+206_360+207insGGCGACCA
NM_181486.4:c.510+206_510+207insGGCGACCA MANE Select	NP_852259.1:n.510+206_510+207insGGCGACCA
NM_080717.4:c.360+206_360+207insGGCGACCA	NP_542448.1:n.360+206_360+207insGGCGACCA