Canonical Allele Identifier: CA2523234991

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398365_114398366insGCGC , CM000674.2:g.114398365_114398366insGCGC	GRCh38
NC_000012.11:g.114836170_114836171insGCGC , CM000674.1:g.114836170_114836171insGCGC	GRCh37
NC_000012.10:g.113320553_113320554insGCGC	NCBI36
NG_007373.1:g.15077_15078insGCGC , LRG_670:g.15077_15078insGCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.510+207_510+208insGCGC MANE Select	ENSP00000384152.3:n.510+207_510+208insGCGC
ENST00000310346.8:c.510+207_510+208insGCGC	ENSP00000309913.4:n.510+207_510+208insGCGC
ENST00000349716.9:c.360+207_360+208insGCGC	ENSP00000337723.5:n.360+207_360+208insGCGC
ENST00000405440.6:c.510+207_510+208insGCGC	ENSP00000384152.2:n.510+207_510+208insGCGC
ENST00000526441.1:c.510+207_510+208insGCGC	ENSP00000433292.1:n.510+207_510+208insGCGC
ENST00000552726.1:n.561+207_561+208insGCGC
NM_000192.3:c.510+207_510+208insGCGC , LRG_670t1:c.510+207_510+208insGCGC	NP_000183.2:n.510+207_510+208insGCGC
NM_080717.2:c.360+207_360+208insGCGC	NP_542448.1:n.360+207_360+208insGCGC
NM_181486.2:c.510+207_510+208insGCGC	NP_852259.1:n.510+207_510+208insGCGC
XM_017019912.1:c.558+207_558+208insGCGC	XP_016875401.1:n.558+207_558+208insGCGC
NM_080717.3:c.360+207_360+208insGCGC	NP_542448.1:n.360+207_360+208insGCGC
NM_181486.4:c.510+207_510+208insGCGC MANE Select	NP_852259.1:n.510+207_510+208insGCGC
NM_080717.4:c.360+207_360+208insGCGC	NP_542448.1:n.360+207_360+208insGCGC