Canonical Allele Identifier: CA2269031096
Gene: TBX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61456171_61456178delinsAGGGACTC , CM000679.2:g.61456171_61456178delinsAGGGACTC GRCh38
NC_000017.10:g.59533532_59533539delinsAGGGACTC , CM000679.1:g.59533532_59533539delinsAGGGACTC GRCh37
NC_000017.9:g.56888314_56888321delinsAGGGACTC NCBI36
NG_008080.1:g.4726_4733delinsAGGGACTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000644296.1:c.-3-317_-3-310delinsAGGGACTC MANE Select ENSP00000495986.1:n.-3-317_-3-310delinsAGGGACTC
ENST00000393853.8:c.-3-317_-3-310delinsAGGGACTC ENSP00000377435.3:n.-3-317_-3-310delinsAGGGACTC
ENST00000589003.5:c.-125-453_-125-446delinsAGGGACTC ENSP00000467588.1:n.-125-453_-125-446delinsAGGGACTC
XM_005257835.3:c.-3-317_-3-310delinsAGGGACTC XP_005257892.2:n.-3-317_-3-310delinsAGGGACTC
XM_005257837.2:c.-3-317_-3-310delinsAGGGACTC XP_005257894.1:n.-3-317_-3-310delinsAGGGACTC
XM_011525490.1:c.187-317_187-310delinsAGGGACTC XP_011523792.1:n.187-317_187-310delinsAGGGACTC
XM_011525491.1:c.187-317_187-310delinsAGGGACTC XP_011523793.1:n.187-317_187-310delinsAGGGACTC
XM_011525492.1:c.-3-317_-3-310delinsAGGGACTC XP_011523794.1:n.-3-317_-3-310delinsAGGGACTC
XM_011525493.1:c.-3-317_-3-310delinsAGGGACTC XP_011523795.1:n.-3-317_-3-310delinsAGGGACTC
XM_011525494.1:c.-3-317_-3-310delinsAGGGACTC XP_011523796.1:n.-3-317_-3-310delinsAGGGACTC
XM_011525495.1:c.187-317_187-310delinsAGGGACTC XP_011523797.1:n.187-317_187-310delinsAGGGACTC
NM_001321120.2:c.-3-317_-3-310delinsAGGGACTC MANE Select NP_001308049.1:n.-3-317_-3-310delinsAGGGACTC
XM_011525490.2:c.187-317_187-310delinsAGGGACTC XP_011523792.1:n.187-317_187-310delinsAGGGACTC
XM_011525491.2:c.187-317_187-310delinsAGGGACTC XP_011523793.1:n.187-317_187-310delinsAGGGACTC
XM_011525495.2:c.187-317_187-310delinsAGGGACTC XP_011523797.1:n.187-317_187-310delinsAGGGACTC