Canonical Allele Identifier: CA2580101995

Gene: TBX22

Linked Data

• ClinVar Variation Id: 11332
• ClinVar RCV Id: RCV000012085

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80026737del , CM000685.2:g.80026737del	GRCh38
NC_000023.10:g.79282236del , CM000685.1:g.79282236del	GRCh37
NC_000023.9:g.79168892del	NCBI36
NG_008998.1:g.16982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.667del MANE Select	ENSP00000362393.3:p.Arg223GlufsTer4
ENST00000373294.8:c.667del	ENSP00000362390.5:p.Arg223GlufsTer4
ENST00000373296.7:c.667del	ENSP00000362393.3:p.Arg223GlufsTer4
ENST00000626498.2:c.*279del	ENSP00000487527.1:n.*279del
ENST00000626877.1:n.546del
NM_001109878.1:c.667del	NP_001103348.1:p.Arg223GlufsTer4
NM_001109879.1:c.307del	NP_001103349.1:p.Arg103GlufsTer4
NM_001303475.1:c.307del	NP_001290404.1:p.Arg103GlufsTer4
NM_016954.2:c.667del	NP_058650.1:p.Arg223GlufsTer4
XM_005262136.2:c.670del	XP_005262193.1:p.Arg224GlufsTer4
XM_006724657.2:c.670del	XP_006724720.1:p.Arg224GlufsTer4
XM_011530972.1:c.307del	XP_011529274.1:p.Arg103GlufsTer4
NM_001109878.2:c.667del MANE Select	NP_001103348.1:p.Arg223GlufsTer4
NM_001109879.2:c.307del	NP_001103349.1:p.Arg103GlufsTer4