Canonical Allele Identifier: CA773785494

Gene: TBX4

Linked Data

• dbSNP Id: rs1229692276
• gnomAD v3: 17-61456062-CAGG-C
• gnomAD v4: 17-61456062-CAGG-C
• MyVariant Identifiers: chr17:g.59533424_59533426del (hg19) ; chr17:g.61456063_61456065del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456066_61456068del , CM000679.2:g.61456066_61456068del	GRCh38
NC_000017.10:g.59533427_59533429del , CM000679.1:g.59533427_59533429del	GRCh37
NC_000017.9:g.56888209_56888211del	NCBI36
NG_008080.1:g.4621_4623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644296.1:c.-3-422_-3-420del MANE Select	ENSP00000495986.1:n.-3-422_-3-420del
ENST00000393853.8:c.-3-422_-3-420del	ENSP00000377435.3:n.-3-422_-3-420del
ENST00000589003.5:c.-125-558_-125-556del	ENSP00000467588.1:n.-125-558_-125-556del
XM_005257835.3:c.-3-422_-3-420del	XP_005257892.2:n.-3-422_-3-420del
XM_005257837.2:c.-3-422_-3-420del	XP_005257894.1:n.-3-422_-3-420del
XM_011525490.1:c.187-422_187-420del	XP_011523792.1:n.187-422_187-420del
XM_011525491.1:c.187-422_187-420del	XP_011523793.1:n.187-422_187-420del
XM_011525492.1:c.-3-422_-3-420del	XP_011523794.1:n.-3-422_-3-420del
XM_011525493.1:c.-3-422_-3-420del	XP_011523795.1:n.-3-422_-3-420del
XM_011525494.1:c.-4+331_-4+333del	XP_011523796.1:n.-4+331_-4+333del
XM_011525495.1:c.187-422_187-420del	XP_011523797.1:n.187-422_187-420del
NM_001321120.2:c.-3-422_-3-420del MANE Select	NP_001308049.1:n.-3-422_-3-420del
XM_011525490.2:c.187-422_187-420del	XP_011523792.1:n.187-422_187-420del
XM_011525491.2:c.187-422_187-420del	XP_011523793.1:n.187-422_187-420del
XM_011525495.2:c.187-422_187-420del	XP_011523797.1:n.187-422_187-420del