Canonical Allele Identifier: CA607645847

Gene: TBX5

Linked Data

• dbSNP Id: rs1242648536
• gnomAD v2: 12-114836167-TGA-T
• gnomAD v3: 12-114398362-TGA-T
• gnomAD v4: 12-114398362-TGA-T
• MyVariant Identifiers: chr12:g.114836168_114836169del (hg19) ; chr12:g.114398363_114398364del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398367_114398368del , CM000674.2:g.114398367_114398368del	GRCh38
NC_000012.11:g.114836172_114836173del , CM000674.1:g.114836172_114836173del	GRCh37
NC_000012.10:g.113320555_113320556del	NCBI36
NG_007373.1:g.15079_15080del , LRG_670:g.15079_15080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.510+209_510+210del MANE Select	ENSP00000384152.3:n.510+209_510+210del
ENST00000310346.8:c.510+209_510+210del	ENSP00000309913.4:n.510+209_510+210del
ENST00000349716.9:c.360+209_360+210del	ENSP00000337723.5:n.360+209_360+210del
ENST00000405440.6:c.510+209_510+210del	ENSP00000384152.2:n.510+209_510+210del
ENST00000526441.1:c.510+209_510+210del	ENSP00000433292.1:n.510+209_510+210del
ENST00000552726.1:n.561+209_561+210del
NM_000192.3:c.510+209_510+210del , LRG_670t1:c.510+209_510+210del	NP_000183.2:n.510+209_510+210del
NM_080717.2:c.360+209_360+210del	NP_542448.1:n.360+209_360+210del
NM_181486.2:c.510+209_510+210del	NP_852259.1:n.510+209_510+210del
XM_017019912.1:c.558+209_558+210del	XP_016875401.1:n.558+209_558+210del
NM_080717.3:c.360+209_360+210del	NP_542448.1:n.360+209_360+210del
NM_181486.4:c.510+209_510+210del MANE Select	NP_852259.1:n.510+209_510+210del
NM_080717.4:c.360+209_360+210del	NP_542448.1:n.360+209_360+210del