Canonical Allele Identifier: CA2064655172

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114401879_114401880delinsCA , CM000674.2:g.114401879_114401880delinsCA	GRCh38
NC_000012.11:g.114839684_114839685delinsCA , CM000674.1:g.114839684_114839685delinsCA	GRCh37
NC_000012.10:g.113324067_113324068delinsCA	NCBI36
NG_007373.1:g.11563_11564delinsTG , LRG_670:g.11563_11564delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.188_189delinsTG MANE Select	ENSP00000384152.3:p.Leu63=
ENST00000310346.8:c.188_189delinsTG	ENSP00000309913.4:p.Leu63=
ENST00000349716.9:c.38_39delinsTG	ENSP00000337723.5:p.Leu13=
ENST00000405440.6:c.188_189delinsTG	ENSP00000384152.2:p.Leu63=
ENST00000526441.1:c.188_189delinsTG	ENSP00000433292.1:p.Leu63=
ENST00000552726.1:n.239_240delinsTG
NM_000192.3:c.188_189delinsTG , LRG_670t1:c.188_189delinsTG	NP_000183.2:p.Leu63=
NM_080717.2:c.38_39delinsTG	NP_542448.1:p.Leu13=
NM_181486.2:c.188_189delinsTG	NP_852259.1:p.Leu63=
XM_017019912.1:c.236_237delinsTG	XP_016875401.1:p.Leu79=
NM_080717.3:c.38_39delinsTG	NP_542448.1:p.Leu13=
NM_181486.4:c.188_189delinsTG MANE Select	NP_852259.1:p.Leu63=
NM_080717.4:c.38_39delinsTG	NP_542448.1:p.Leu13=