Canonical Allele Identifier: CA292260614

Gene: TBX4

Linked Data

• ClinVar Variation Id: 2711205
• ClinVar RCV Id: RCV003552771
• dbSNP Id: rs772891363
• gnomAD v2: 17-59534015-T-TCGC
• gnomAD v3: 17-61456654-T-TCGC
• gnomAD v4: 17-61456654-T-TCGC
• MyVariant Identifiers: chr17:g.59534021_59534022insCGC (hg19) ; chr17:g.59534018_59534019insCGC (hg19) ; chr17:g.59534015_59534016insCGC (hg19) ; chr17:g.61456657_61456658insCGC (hg38) ; chr17:g.61456654_61456655insCGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456667_61456669dup , CM000679.2:g.61456667_61456669dup	GRCh38
NC_000017.10:g.59534028_59534030dup , CM000679.1:g.59534028_59534030dup	GRCh37
NC_000017.9:g.56888810_56888812dup	NCBI36
NG_008080.1:g.5222_5224dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642491.1:c.177_179dup	ENSP00000495714.1:p.Ala60_Glu61insAla
ENST00000644296.1:c.177_179dup MANE Select	ENSP00000495986.1:p.Ala60_Glu61insAla
ENST00000240335.1:c.177_179dup	ENSP00000240335.1:p.Ala60_Glu61insAla
ENST00000393853.8:c.177_179dup	ENSP00000377435.3:p.Ala60_Glu61insAla
ENST00000589003.5:c.-82_-80dup	ENSP00000467588.1:n.-82_-80dup
NM_018488.2:c.177_179dup	NP_060958.2:p.Ala60_Glu61insAla
XM_005257835.3:c.177_179dup	XP_005257892.2:p.Ala60_Glu61insAla
XM_005257837.2:c.177_179dup	XP_005257894.1:p.Ala60_Glu61insAla
XM_011525490.1:c.366_368dup	XP_011523792.1:p.Ala123_Glu124insAla
XM_011525491.1:c.366_368dup	XP_011523793.1:p.Ala123_Glu124insAla
XM_011525492.1:c.177_179dup	XP_011523794.1:p.Ala60_Glu61insAla
XM_011525493.1:c.177_179dup	XP_011523795.1:p.Ala60_Glu61insAla
XM_011525494.1:c.177_179dup	XP_011523796.1:p.Ala60_Glu61insAla
XM_011525495.1:c.366_368dup	XP_011523797.1:p.Ala123_Glu124insAla
NM_001321120.2:c.177_179dup MANE Select	NP_001308049.1:p.Ala60_Glu61insAla
NM_018488.3:c.177_179dup	NP_060958.2:p.Ala60_Glu61insAla
XM_011525490.2:c.366_368dup	XP_011523792.1:p.Ala123_Glu124insAla
XM_011525491.2:c.366_368dup	XP_011523793.1:p.Ala123_Glu124insAla
XM_011525495.2:c.366_368dup	XP_011523797.1:p.Ala123_Glu124insAla