Canonical Allele Identifier: CA6809629

Gene: TBX5

Linked Data

• dbSNP Id: rs371958704
• ExAC: 12:114837277 CT / C
• gnomAD v2: 12-114837277-CT-C
• gnomAD v3: 12-114399472-CT-C
• gnomAD v4: 12-114399472-CT-C
• MyVariant Identifiers: chr12:g.114837278del (hg19) ; chr12:g.114399473del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114399476del , CM000674.2:g.114399476del	GRCh38
NC_000012.11:g.114837281del , CM000674.1:g.114837281del	GRCh37
NC_000012.10:g.113321664del	NCBI36
NG_007373.1:g.13970del , LRG_670:g.13970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.362+40del MANE Select	ENSP00000384152.3:n.362+40del
ENST00000310346.8:c.362+40del	ENSP00000309913.4:n.362+40del
ENST00000349716.9:c.212+40del	ENSP00000337723.5:n.212+40del
ENST00000405440.6:c.362+40del	ENSP00000384152.2:n.362+40del
ENST00000526441.1:c.362+40del	ENSP00000433292.1:n.362+40del
ENST00000552726.1:n.413+40del
NM_000192.3:c.362+40del , LRG_670t1:c.362+40del	NP_000183.2:n.362+40del
NM_080717.2:c.212+40del	NP_542448.1:n.212+40del
NM_181486.2:c.362+40del	NP_852259.1:n.362+40del
XM_017019912.1:c.410+40del	XP_016875401.1:n.410+40del
NM_080717.3:c.212+40del	NP_542448.1:n.212+40del
NM_181486.4:c.362+40del MANE Select	NP_852259.1:n.362+40del
NM_080717.4:c.212+40del	NP_542448.1:n.212+40del