Canonical Allele Identifier: CA2542104656
Gene: TBX3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114670466_114670467insGTC , CM000674.2:g.114670466_114670467insGTC GRCh38
NC_000012.11:g.115108271_115108272insGTC , CM000674.1:g.115108271_115108272insGTC GRCh37
NC_000012.10:g.113592654_113592655insGTC NCBI36
NG_008315.1:g.18698_18699insGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.*1374_*1375insGAC MANE Select ENSP00000257567.2:n.*1374_*1375insGAC
ENST00000257566.7:c.*1374_*1375insGAC ENSP00000257566.3:n.*1374_*1375insGAC
ENST00000349155.6:c.*1374_*1375insGAC ENSP00000257567.2:n.*1374_*1375insGAC
NM_005996.3:c.*1374_*1375insGAC NP_005987.3:n.*1374_*1375insGAC
NM_016569.3:c.*1374_*1375insGAC NP_057653.3:n.*1374_*1375insGAC
NM_005996.4:c.*1374_*1375insGAC MANE Select NP_005987.3:n.*1374_*1375insGAC
NM_016569.4:c.*1374_*1375insGAC NP_057653.3:n.*1374_*1375insGAC