Canonical Allele Identifier: CA2064632923

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114354477_114354479delinsCTG , CM000674.2:g.114354477_114354479delinsCTG	GRCh38
NC_000012.11:g.114792282_114792284delinsCTG , CM000674.1:g.114792282_114792284delinsCTG	GRCh37
NC_000012.10:g.113276665_113276667delinsCTG	NCBI36
NG_007373.1:g.58964_58966delinsCAG , LRG_670:g.58964_58966delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.*1053_*1055delinsCAG MANE Select	ENSP00000384152.3:n.*1053_*1055delinsCAG
ENST00000310346.8:c.*1053_*1055delinsCAG	ENSP00000309913.4:n.*1053_*1055delinsCAG
ENST00000349716.9:c.*1053_*1055delinsCAG	ENSP00000337723.5:n.*1053_*1055delinsCAG
NM_000192.3:c.*1053_*1055delinsCAG , LRG_670t1:c.*1053_*1055delinsCAG	NP_000183.2:n.*1053_*1055delinsCAG
NM_080717.2:c.*1053_*1055delinsCAG	NP_542448.1:n.*1053_*1055delinsCAG
NM_181486.2:c.*1053_*1055delinsCAG	NP_852259.1:n.*1053_*1055delinsCAG
XM_017019912.1:c.*1053_*1055delinsCAG	XP_016875401.1:n.*1053_*1055delinsCAG
NM_080717.3:c.*1053_*1055delinsCAG	NP_542448.1:n.*1053_*1055delinsCAG
NM_181486.4:c.*1053_*1055delinsCAG MANE Select	NP_852259.1:n.*1053_*1055delinsCAG
NM_080717.4:c.*1053_*1055delinsCAG	NP_542448.1:n.*1053_*1055delinsCAG