Canonical Allele Identifier: CA2269031439

Gene: TBX4

Linked Data

• dbSNP Id: rs2060453797
• gnomAD v4: 17-61456775-TCAGGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456776_61456781del , CM000679.2:g.61456776_61456781del	GRCh38
NC_000017.10:g.59534137_59534142del , CM000679.1:g.59534137_59534142del	GRCh37
NC_000017.9:g.56888919_56888924del	NCBI36
NG_008080.1:g.5331_5336del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642491.1:c.186+100_186+105del	ENSP00000495714.1:n.186+100_186+105del
ENST00000644296.1:c.186+100_186+105del MANE Select	ENSP00000495986.1:n.186+100_186+105del
ENST00000240335.1:c.186+100_186+105del	ENSP00000240335.1:n.186+100_186+105del
ENST00000393853.8:c.186+100_186+105del	ENSP00000377435.3:n.186+100_186+105del
ENST00000589003.5:c.-73+100_-73+105del	ENSP00000467588.1:n.-73+100_-73+105del
NM_018488.2:c.186+100_186+105del	NP_060958.2:n.186+100_186+105del
XM_005257835.3:c.186+100_186+105del	XP_005257892.2:n.186+100_186+105del
XM_005257837.2:c.186+100_186+105del	XP_005257894.1:n.186+100_186+105del
XM_011525490.1:c.375+100_375+105del	XP_011523792.1:n.375+100_375+105del
XM_011525491.1:c.375+100_375+105del	XP_011523793.1:n.375+100_375+105del
XM_011525492.1:c.186+100_186+105del	XP_011523794.1:n.186+100_186+105del
XM_011525493.1:c.186+100_186+105del	XP_011523795.1:n.186+100_186+105del
XM_011525494.1:c.186+100_186+105del	XP_011523796.1:n.186+100_186+105del
XM_011525495.1:c.375+100_375+105del	XP_011523797.1:n.375+100_375+105del
NM_001321120.2:c.186+100_186+105del MANE Select	NP_001308049.1:n.186+100_186+105del
NM_018488.3:c.186+100_186+105del	NP_060958.2:n.186+100_186+105del
XM_011525490.2:c.375+100_375+105del	XP_011523792.1:n.375+100_375+105del
XM_011525491.2:c.375+100_375+105del	XP_011523793.1:n.375+100_375+105del
XM_011525495.2:c.375+100_375+105del	XP_011523797.1:n.375+100_375+105del