Canonical Allele Identifier: CA2565355863

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398344dup , CM000674.2:g.114398344dup	GRCh38
NC_000012.11:g.114836149dup , CM000674.1:g.114836149dup	GRCh37
NC_000012.10:g.113320532dup	NCBI36
NG_007373.1:g.15099dup , LRG_670:g.15099dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.510+229dup MANE Select	ENSP00000384152.3:n.510+229dup
ENST00000310346.8:c.510+229dup	ENSP00000309913.4:n.510+229dup
ENST00000349716.9:c.360+229dup	ENSP00000337723.5:n.360+229dup
ENST00000405440.6:c.510+229dup	ENSP00000384152.2:n.510+229dup
ENST00000526441.1:c.510+229dup	ENSP00000433292.1:n.510+229dup
ENST00000552726.1:n.561+229dup
NM_000192.3:c.510+229dup , LRG_670t1:c.510+229dup	NP_000183.2:n.510+229dup
NM_080717.2:c.360+229dup	NP_542448.1:n.360+229dup
NM_181486.2:c.510+229dup	NP_852259.1:n.510+229dup
XM_017019912.1:c.558+229dup	XP_016875401.1:n.558+229dup
NM_080717.3:c.360+229dup	NP_542448.1:n.360+229dup
NM_181486.4:c.510+229dup MANE Select	NP_852259.1:n.510+229dup
NM_080717.4:c.360+229dup	NP_542448.1:n.360+229dup