Canonical Allele Identifier: CA2639148318

Gene: TBX4

Linked Data

• gnomAD v4: 17-61456639-CCGGGGCCGACGTCGTCGCCGCCGCCGCCGCGGAGCAGGTAGGGCTGCGCCAGCCGTCGGGTAGAAGTCGGGCGTCGGTCTGTCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456648_61456732del , CM000679.2:g.61456648_61456732del	GRCh38
NC_000017.10:g.59534009_59534093del , CM000679.1:g.59534009_59534093del	GRCh37
NC_000017.9:g.56888791_56888875del	NCBI36
NG_008080.1:g.5203_5287del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642491.1:c.158_186+56del
ENST00000644296.1:c.158_186+56del
ENST00000240335.1:c.158_186+56del
ENST00000393853.8:c.158_186+56del
ENST00000589003.5:c.-101_-73+56del
NM_018488.2:c.158_186+56del
XM_005257835.3:c.158_186+56del
XM_005257837.2:c.158_186+56del
XM_011525490.1:c.347_375+56del
XM_011525491.1:c.347_375+56del
XM_011525492.1:c.158_186+56del
XM_011525493.1:c.158_186+56del
XM_011525494.1:c.158_186+56del
XM_011525495.1:c.347_375+56del
NM_001321120.2:c.158_186+56del
NM_018488.3:c.158_186+56del
XM_011525490.2:c.347_375+56del
XM_011525491.2:c.347_375+56del
XM_011525495.2:c.347_375+56del