Canonical Allele Identifier: CA2524170673
Gene: TBX22 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.80026820_80026822del , CM000685.2:g.80026820_80026822del GRCh38
NC_000023.10:g.79282319_79282321del , CM000685.1:g.79282319_79282321del GRCh37
NC_000023.9:g.79168975_79168977del NCBI36
NG_008998.1:g.17065_17067del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373296.8:c.750_752del MANE Select ENSP00000362393.3:p.Phe251del
ENST00000373294.8:c.750_752del ENSP00000362390.5:p.Phe251del
ENST00000373296.7:c.750_752del ENSP00000362393.3:p.Phe251del
ENST00000626498.2:c.*362_*364del ENSP00000487527.1:n.*362_*364del
ENST00000626877.1:n.629_631del
NM_001109878.1:c.750_752del NP_001103348.1:p.Phe251del
NM_001109879.1:c.390_392del NP_001103349.1:p.Phe131del
NM_001303475.1:c.390_392del NP_001290404.1:p.Phe131del
NM_016954.2:c.750_752del NP_058650.1:p.Phe251del
XM_005262136.2:c.753_755del XP_005262193.1:p.Phe252del
XM_006724657.2:c.753_755del XP_006724720.1:p.Phe252del
XM_011530972.1:c.390_392del XP_011529274.1:p.Phe131del
NM_001109878.2:c.750_752del MANE Select NP_001103348.1:p.Phe251del
NM_001109879.2:c.390_392del NP_001103349.1:p.Phe131del