Canonical Allele Identifier: CA10603297

Gene: TBX5

Linked Data

• ClinVar Variation Id: 280392
• ClinVar RCV Id: RCV000290983
• dbSNP Id: rs886041606
• MyVariant Identifiers: chr12:g.114836422del (hg19) ; chr12:g.114398617del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398618del , CM000674.2:g.114398618del	GRCh38
NC_000012.11:g.114836423del , CM000674.1:g.114836423del	GRCh37
NC_000012.10:g.113320806del	NCBI36
NG_007373.1:g.14826del , LRG_670:g.14826del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.466del MANE Select	ENSP00000384152.3:p.Gln156ArgfsTer18
ENST00000310346.8:c.466del	ENSP00000309913.4:p.Gln156ArgfsTer18
ENST00000349716.9:c.316del	ENSP00000337723.5:p.Gln106ArgfsTer18
ENST00000405440.6:c.466del	ENSP00000384152.2:p.Gln156ArgfsTer18
ENST00000526441.1:c.466del	ENSP00000433292.1:p.Gln156ArgfsTer18
ENST00000552726.1:n.517del
NM_000192.3:c.466del , LRG_670t1:c.466del	NP_000183.2:p.Gln156ArgfsTer18
NM_080717.2:c.316del	NP_542448.1:p.Gln106ArgfsTer18
NM_181486.2:c.466del	NP_852259.1:p.Gln156ArgfsTer18
XM_017019912.1:c.514del	XP_016875401.1:p.Gln172ArgfsTer18
NM_080717.3:c.316del	NP_542448.1:p.Gln106ArgfsTer18
NM_181486.4:c.466del MANE Select	NP_852259.1:p.Gln156ArgfsTer18
NM_080717.4:c.316del	NP_542448.1:p.Gln106ArgfsTer18