Canonical Allele Identifier: CA773785468

Gene: TBX4

Linked Data

• dbSNP Id: rs1393850234
• gnomAD v3: 17-61455978-T-TCCTGAGGC
• gnomAD v4: 17-61455978-T-TCCTGAGGC
• MyVariant Identifiers: chr17:g.59533339_59533340insCCTGAGGC (hg19) ; chr17:g.61455978_61455979insCCTGAGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61455982_61455989dup , CM000679.2:g.61455982_61455989dup	GRCh38
NC_000017.10:g.59533343_59533350dup , CM000679.1:g.59533343_59533350dup	GRCh37
NC_000017.9:g.56888125_56888132dup	NCBI36
NG_008080.1:g.4537_4544dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644296.1:c.-3-506_-3-499dup MANE Select	ENSP00000495986.1:n.-3-506_-3-499dup
ENST00000393853.8:c.-3-506_-3-499dup	ENSP00000377435.3:n.-3-506_-3-499dup
ENST00000589003.5:c.-125-642_-125-635dup	ENSP00000467588.1:n.-125-642_-125-635dup
XM_005257835.3:c.-3-506_-3-499dup	XP_005257892.2:n.-3-506_-3-499dup
XM_005257837.2:c.-3-506_-3-499dup	XP_005257894.1:n.-3-506_-3-499dup
XM_011525490.1:c.187-506_187-499dup	XP_011523792.1:n.187-506_187-499dup
XM_011525491.1:c.187-506_187-499dup	XP_011523793.1:n.187-506_187-499dup
XM_011525492.1:c.-3-506_-3-499dup	XP_011523794.1:n.-3-506_-3-499dup
XM_011525493.1:c.-3-506_-3-499dup	XP_011523795.1:n.-3-506_-3-499dup
XM_011525494.1:c.-4+247_-4+254dup	XP_011523796.1:n.-4+247_-4+254dup
XM_011525495.1:c.187-506_187-499dup	XP_011523797.1:n.187-506_187-499dup
NM_001321120.2:c.-3-506_-3-499dup MANE Select	NP_001308049.1:n.-3-506_-3-499dup
XM_011525490.2:c.187-506_187-499dup	XP_011523792.1:n.187-506_187-499dup
XM_011525491.2:c.187-506_187-499dup	XP_011523793.1:n.187-506_187-499dup
XM_011525495.2:c.187-506_187-499dup	XP_011523797.1:n.187-506_187-499dup