Canonical Allele Identifier: CA773785540

Gene: TBX4

Linked Data

• dbSNP Id: rs1321396473
• gnomAD v3: 17-61456171-AGGGACTC-A
• gnomAD v4: 17-61456171-AGGGACTC-A
• MyVariant Identifiers: chr17:g.59533533_59533539del (hg19) ; chr17:g.61456172_61456178del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456175_61456181del , CM000679.2:g.61456175_61456181del	GRCh38
NC_000017.10:g.59533536_59533542del , CM000679.1:g.59533536_59533542del	GRCh37
NC_000017.9:g.56888318_56888324del	NCBI36
NG_008080.1:g.4730_4736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644296.1:c.-3-313_-3-307del MANE Select	ENSP00000495986.1:n.-3-313_-3-307del
ENST00000393853.8:c.-3-313_-3-307del	ENSP00000377435.3:n.-3-313_-3-307del
ENST00000589003.5:c.-125-449_-125-443del	ENSP00000467588.1:n.-125-449_-125-443del
XM_005257835.3:c.-3-313_-3-307del	XP_005257892.2:n.-3-313_-3-307del
XM_005257837.2:c.-3-313_-3-307del	XP_005257894.1:n.-3-313_-3-307del
XM_011525490.1:c.187-313_187-307del	XP_011523792.1:n.187-313_187-307del
XM_011525491.1:c.187-313_187-307del	XP_011523793.1:n.187-313_187-307del
XM_011525492.1:c.-3-313_-3-307del	XP_011523794.1:n.-3-313_-3-307del
XM_011525493.1:c.-3-313_-3-307del	XP_011523795.1:n.-3-313_-3-307del
XM_011525494.1:c.-3-313_-3-307del	XP_011523796.1:n.-3-313_-3-307del
XM_011525495.1:c.187-313_187-307del	XP_011523797.1:n.187-313_187-307del
NM_001321120.2:c.-3-313_-3-307del MANE Select	NP_001308049.1:n.-3-313_-3-307del
XM_011525490.2:c.187-313_187-307del	XP_011523792.1:n.187-313_187-307del
XM_011525491.2:c.187-313_187-307del	XP_011523793.1:n.187-313_187-307del
XM_011525495.2:c.187-313_187-307del	XP_011523797.1:n.187-313_187-307del