Canonical Allele Identifier: CA2639148372

Gene: TBX4

Linked Data

• gnomAD v4: 17-61456651-T-TCGTCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456654_61456659dup , CM000679.2:g.61456654_61456659dup	GRCh38
NC_000017.10:g.59534015_59534020dup , CM000679.1:g.59534015_59534020dup	GRCh37
NC_000017.9:g.56888797_56888802dup	NCBI36
NG_008080.1:g.5209_5214dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642491.1:c.164_169dup	ENSP00000495714.1:p.Ala56_Ala57insValAla
ENST00000644296.1:c.164_169dup MANE Select	ENSP00000495986.1:p.Ala56_Ala57insValAla
ENST00000240335.1:c.164_169dup	ENSP00000240335.1:p.Ala56_Ala57insValAla
ENST00000393853.8:c.164_169dup	ENSP00000377435.3:p.Ala56_Ala57insValAla
ENST00000589003.5:c.-95_-90dup	ENSP00000467588.1:n.-95_-90dup
NM_018488.2:c.164_169dup	NP_060958.2:p.Ala56_Ala57insValAla
XM_005257835.3:c.164_169dup	XP_005257892.2:p.Ala56_Ala57insValAla
XM_005257837.2:c.164_169dup	XP_005257894.1:p.Ala56_Ala57insValAla
XM_011525490.1:c.353_358dup	XP_011523792.1:p.Ala119_Ala120insValAla
XM_011525491.1:c.353_358dup	XP_011523793.1:p.Ala119_Ala120insValAla
XM_011525492.1:c.164_169dup	XP_011523794.1:p.Ala56_Ala57insValAla
XM_011525493.1:c.164_169dup	XP_011523795.1:p.Ala56_Ala57insValAla
XM_011525494.1:c.164_169dup	XP_011523796.1:p.Ala56_Ala57insValAla
XM_011525495.1:c.353_358dup	XP_011523797.1:p.Ala119_Ala120insValAla
NM_001321120.2:c.164_169dup MANE Select	NP_001308049.1:p.Ala56_Ala57insValAla
NM_018488.3:c.164_169dup	NP_060958.2:p.Ala56_Ala57insValAla
XM_011525490.2:c.353_358dup	XP_011523792.1:p.Ala119_Ala120insValAla
XM_011525491.2:c.353_358dup	XP_011523793.1:p.Ala119_Ala120insValAla
XM_011525495.2:c.353_358dup	XP_011523797.1:p.Ala119_Ala120insValAla