Canonical Allele Identifier: CA2064648771

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398289_114398291delinsCAG , CM000674.2:g.114398289_114398291delinsCAG	GRCh38
NC_000012.11:g.114836094_114836096delinsCAG , CM000674.1:g.114836094_114836096delinsCAG	GRCh37
NC_000012.10:g.113320477_113320479delinsCAG	NCBI36
NG_007373.1:g.15152_15154delinsCTG , LRG_670:g.15152_15154delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.510+282_510+284delinsCTG MANE Select	ENSP00000384152.3:n.510+282_510+284delinsCTG
ENST00000310346.8:c.510+282_510+284delinsCTG	ENSP00000309913.4:n.510+282_510+284delinsCTG
ENST00000349716.9:c.360+282_360+284delinsCTG	ENSP00000337723.5:n.360+282_360+284delinsCTG
ENST00000405440.6:c.510+282_510+284delinsCTG	ENSP00000384152.2:n.510+282_510+284delinsCTG
ENST00000526441.1:c.510+282_510+284delinsCTG	ENSP00000433292.1:n.510+282_510+284delinsCTG
ENST00000552726.1:n.561+282_561+284delinsCTG
NM_000192.3:c.510+282_510+284delinsCTG , LRG_670t1:c.510+282_510+284delinsCTG	NP_000183.2:n.510+282_510+284delinsCTG
NM_080717.2:c.360+282_360+284delinsCTG	NP_542448.1:n.360+282_360+284delinsCTG
NM_181486.2:c.510+282_510+284delinsCTG	NP_852259.1:n.510+282_510+284delinsCTG
XM_017019912.1:c.558+282_558+284delinsCTG	XP_016875401.1:n.558+282_558+284delinsCTG
NM_080717.3:c.360+282_360+284delinsCTG	NP_542448.1:n.360+282_360+284delinsCTG
NM_181486.4:c.510+282_510+284delinsCTG MANE Select	NP_852259.1:n.510+282_510+284delinsCTG
NM_080717.4:c.360+282_360+284delinsCTG	NP_542448.1:n.360+282_360+284delinsCTG