Canonical Allele Identifier: CA2064789985
Gene: TBX3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114670335_114670336delinsCA , CM000674.2:g.114670335_114670336delinsCA GRCh38
NC_000012.11:g.115108140_115108141delinsCA , CM000674.1:g.115108140_115108141delinsCA GRCh37
NC_000012.10:g.113592523_113592524delinsCA NCBI36
NG_008315.1:g.18829_18830delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.*1505_*1506delinsTG MANE Select ENSP00000257567.2:n.*1505_*1506delinsTG
ENST00000257566.7:c.*1505_*1506delinsTG ENSP00000257566.3:n.*1505_*1506delinsTG
ENST00000349155.6:c.*1505_*1506delinsTG ENSP00000257567.2:n.*1505_*1506delinsTG
NM_005996.3:c.*1505_*1506delinsTG NP_005987.3:n.*1505_*1506delinsTG
NM_016569.3:c.*1505_*1506delinsTG NP_057653.3:n.*1505_*1506delinsTG
NM_005996.4:c.*1505_*1506delinsTG MANE Select NP_005987.3:n.*1505_*1506delinsTG
NM_016569.4:c.*1505_*1506delinsTG NP_057653.3:n.*1505_*1506delinsTG