Canonical Allele Identifier: CA773785466

Gene: TBX4

Linked Data

• dbSNP Id: rs1365524136
• gnomAD v3: 17-61455970-G-GCCTGAGGT
• gnomAD v4: 17-61455970-G-GCCTGAGGT
• MyVariant Identifiers: chr17:g.59533331_59533332insCCTGAGGT (hg19) ; chr17:g.61455970_61455971insCCTGAGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61455978_61455985dup , CM000679.2:g.61455978_61455985dup	GRCh38
NC_000017.10:g.59533339_59533346dup , CM000679.1:g.59533339_59533346dup	GRCh37
NC_000017.9:g.56888121_56888128dup	NCBI36
NG_008080.1:g.4533_4540dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644296.1:c.-3-510_-3-503dup MANE Select	ENSP00000495986.1:n.-3-510_-3-503dup
ENST00000393853.8:c.-3-510_-3-503dup	ENSP00000377435.3:n.-3-510_-3-503dup
ENST00000589003.5:c.-125-646_-125-639dup	ENSP00000467588.1:n.-125-646_-125-639dup
XM_005257835.3:c.-3-510_-3-503dup	XP_005257892.2:n.-3-510_-3-503dup
XM_005257837.2:c.-3-510_-3-503dup	XP_005257894.1:n.-3-510_-3-503dup
XM_011525490.1:c.187-510_187-503dup	XP_011523792.1:n.187-510_187-503dup
XM_011525491.1:c.187-510_187-503dup	XP_011523793.1:n.187-510_187-503dup
XM_011525492.1:c.-3-510_-3-503dup	XP_011523794.1:n.-3-510_-3-503dup
XM_011525493.1:c.-3-510_-3-503dup	XP_011523795.1:n.-3-510_-3-503dup
XM_011525494.1:c.-4+243_-4+250dup	XP_011523796.1:n.-4+243_-4+250dup
XM_011525495.1:c.187-510_187-503dup	XP_011523797.1:n.187-510_187-503dup
NM_001321120.2:c.-3-510_-3-503dup MANE Select	NP_001308049.1:n.-3-510_-3-503dup
XM_011525490.2:c.187-510_187-503dup	XP_011523792.1:n.187-510_187-503dup
XM_011525491.2:c.187-510_187-503dup	XP_011523793.1:n.187-510_187-503dup
XM_011525495.2:c.187-510_187-503dup	XP_011523797.1:n.187-510_187-503dup