Canonical Allele Identifier: CA683862321

Gene: TBX5

Linked Data

• dbSNP Id: rs1228606685
• gnomAD v3: 12-114398315-AGAAAGCAAAGG-A
• gnomAD v4: 12-114398315-AGAAAGCAAAGG-A
• MyVariant Identifiers: chr12:g.114836121_114836131del (hg19) ; chr12:g.114398316_114398326del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398324_114398334del , CM000674.2:g.114398324_114398334del	GRCh38
NC_000012.11:g.114836129_114836139del , CM000674.1:g.114836129_114836139del	GRCh37
NC_000012.10:g.113320512_113320522del	NCBI36
NG_007373.1:g.15117_15127del , LRG_670:g.15117_15127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.510+247_510+257del MANE Select	ENSP00000384152.3:n.510+247_510+257del
ENST00000310346.8:c.510+247_510+257del	ENSP00000309913.4:n.510+247_510+257del
ENST00000349716.9:c.360+247_360+257del	ENSP00000337723.5:n.360+247_360+257del
ENST00000405440.6:c.510+247_510+257del	ENSP00000384152.2:n.510+247_510+257del
ENST00000526441.1:c.510+247_510+257del	ENSP00000433292.1:n.510+247_510+257del
ENST00000552726.1:n.561+247_561+257del
NM_000192.3:c.510+247_510+257del , LRG_670t1:c.510+247_510+257del	NP_000183.2:n.510+247_510+257del
NM_080717.2:c.360+247_360+257del	NP_542448.1:n.360+247_360+257del
NM_181486.2:c.510+247_510+257del	NP_852259.1:n.510+247_510+257del
XM_017019912.1:c.558+247_558+257del	XP_016875401.1:n.558+247_558+257del
NM_080717.3:c.360+247_360+257del	NP_542448.1:n.360+247_360+257del
NM_181486.4:c.510+247_510+257del MANE Select	NP_852259.1:n.510+247_510+257del
NM_080717.4:c.360+247_360+257del	NP_542448.1:n.360+247_360+257del