Canonical Allele Identifier: CA626801764

Gene: TBX4

Linked Data

• dbSNP Id: rs1377918538
• gnomAD v2: 17-59534102-C-CGTCT
• gnomAD v3: 17-61456741-C-CGTCT
• gnomAD v4: 17-61456741-C-CGTCT
• MyVariant Identifiers: chr17:g.59534102_59534103insGTCT (hg19) ; chr17:g.61456741_61456742insGTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456742_61456745dup , CM000679.2:g.61456742_61456745dup	GRCh38
NC_000017.10:g.59534103_59534106dup , CM000679.1:g.59534103_59534106dup	GRCh37
NC_000017.9:g.56888885_56888888dup	NCBI36
NG_008080.1:g.5297_5300dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642491.1:c.186+66_186+69dup	ENSP00000495714.1:n.186+66_186+69dup
ENST00000644296.1:c.186+66_186+69dup MANE Select	ENSP00000495986.1:n.186+66_186+69dup
ENST00000240335.1:c.186+66_186+69dup	ENSP00000240335.1:n.186+66_186+69dup
ENST00000393853.8:c.186+66_186+69dup	ENSP00000377435.3:n.186+66_186+69dup
ENST00000589003.5:c.-73+66_-73+69dup	ENSP00000467588.1:n.-73+66_-73+69dup
NM_018488.2:c.186+66_186+69dup	NP_060958.2:n.186+66_186+69dup
XM_005257835.3:c.186+66_186+69dup	XP_005257892.2:n.186+66_186+69dup
XM_005257837.2:c.186+66_186+69dup	XP_005257894.1:n.186+66_186+69dup
XM_011525490.1:c.375+66_375+69dup	XP_011523792.1:n.375+66_375+69dup
XM_011525491.1:c.375+66_375+69dup	XP_011523793.1:n.375+66_375+69dup
XM_011525492.1:c.186+66_186+69dup	XP_011523794.1:n.186+66_186+69dup
XM_011525493.1:c.186+66_186+69dup	XP_011523795.1:n.186+66_186+69dup
XM_011525494.1:c.186+66_186+69dup	XP_011523796.1:n.186+66_186+69dup
XM_011525495.1:c.375+66_375+69dup	XP_011523797.1:n.375+66_375+69dup
NM_001321120.2:c.186+66_186+69dup MANE Select	NP_001308049.1:n.186+66_186+69dup
NM_018488.3:c.186+66_186+69dup	NP_060958.2:n.186+66_186+69dup
XM_011525490.2:c.375+66_375+69dup	XP_011523792.1:n.375+66_375+69dup
XM_011525491.2:c.375+66_375+69dup	XP_011523793.1:n.375+66_375+69dup
XM_011525495.2:c.375+66_375+69dup	XP_011523797.1:n.375+66_375+69dup