Canonical Allele Identifier: CA2632674227

Gene: TBX6

Linked Data

• gnomAD v4: 16-30089142-AGAAGAAACAAGTAGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30089144_30089158del , CM000678.2:g.30089144_30089158del	GRCh38
NC_000016.9:g.30100465_30100479del , CM000678.1:g.30100465_30100479del	GRCh37
NC_000016.8:g.30007966_30007980del	NCBI36
NG_023283.1:g.7728_7742del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395224.7:c.407_421del MANE Select	ENSP00000378650.2:p.Arg136_Leu140del
ENST00000279386.6:c.407_421del	ENSP00000279386.2:p.Arg136_Leu140del
ENST00000395224.6:c.407_421del	ENSP00000378650.2:p.Arg136_Leu140del
ENST00000553607.1:c.407_421del	ENSP00000461223.1:p.Arg136_Leu140del
ENST00000567664.5:c.407_421del	ENSP00000460425.1:p.Arg136_Leu140del
ENST00000627355.2:c.407_421del	ENSP00000485762.1:p.Arg136_Leu140del
NM_004608.3:c.407_421del	NP_004599.2:p.Arg136_Leu140del
XM_005255523.1:c.407_421del	XP_005255580.1:p.Arg136_Leu140del
XM_011545926.1:c.407_421del	XP_011544228.1:p.Arg136_Leu140del
XR_950840.1:n.1151_1165del
XM_005255523.2:c.407_421del	XP_005255580.1:p.Arg136_Leu140del
XM_011545926.3:c.407_421del	XP_011544228.1:p.Arg136_Leu140del
XM_017023614.1:c.407_421del	XP_016879103.1:p.Arg136_Leu140del
XR_950840.3:n.1141_1155del
NM_004608.4:c.407_421del MANE Select	NP_004599.2:p.Arg136_Leu140del