Canonical Allele Identifier: CA773785577

Gene: TBX4

Linked Data

• dbSNP Id: rs1326492433
• MyVariant Identifiers: chr17:g.59533572_59533575del (hg19) ; chr17:g.61456211_61456214del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456215_61456218del , CM000679.2:g.61456215_61456218del	GRCh38
NC_000017.10:g.59533576_59533579del , CM000679.1:g.59533576_59533579del	GRCh37
NC_000017.9:g.56888358_56888361del	NCBI36
NG_008080.1:g.4770_4773del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644296.1:c.-3-273_-3-270del MANE Select	ENSP00000495986.1:n.-3-273_-3-270del
ENST00000393853.8:c.-3-273_-3-270del	ENSP00000377435.3:n.-3-273_-3-270del
ENST00000589003.5:c.-125-409_-125-406del	ENSP00000467588.1:n.-125-409_-125-406del
XM_005257835.3:c.-3-273_-3-270del	XP_005257892.2:n.-3-273_-3-270del
XM_005257837.2:c.-3-273_-3-270del	XP_005257894.1:n.-3-273_-3-270del
XM_011525490.1:c.187-273_187-270del	XP_011523792.1:n.187-273_187-270del
XM_011525491.1:c.187-273_187-270del	XP_011523793.1:n.187-273_187-270del
XM_011525492.1:c.-3-273_-3-270del	XP_011523794.1:n.-3-273_-3-270del
XM_011525493.1:c.-3-273_-3-270del	XP_011523795.1:n.-3-273_-3-270del
XM_011525494.1:c.-3-273_-3-270del	XP_011523796.1:n.-3-273_-3-270del
XM_011525495.1:c.187-273_187-270del	XP_011523797.1:n.187-273_187-270del
NM_001321120.2:c.-3-273_-3-270del MANE Select	NP_001308049.1:n.-3-273_-3-270del
XM_011525490.2:c.187-273_187-270del	XP_011523792.1:n.187-273_187-270del
XM_011525491.2:c.187-273_187-270del	XP_011523793.1:n.187-273_187-270del
XM_011525495.2:c.187-273_187-270del	XP_011523797.1:n.187-273_187-270del