Canonical Allele Identifier: CA2570079715
Gene: TBX3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114670369_114670370dup , CM000674.2:g.114670369_114670370dup GRCh38
NC_000012.11:g.115108174_115108175dup , CM000674.1:g.115108174_115108175dup GRCh37
NC_000012.10:g.113592557_113592558dup NCBI36
NG_008315.1:g.18796_18797dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.*1472_*1473dup MANE Select ENSP00000257567.2:n.*1472_*1473dup
ENST00000257566.7:c.*1472_*1473dup ENSP00000257566.3:n.*1472_*1473dup
ENST00000349155.6:c.*1472_*1473dup ENSP00000257567.2:n.*1472_*1473dup
NM_005996.3:c.*1472_*1473dup NP_005987.3:n.*1472_*1473dup
NM_016569.3:c.*1472_*1473dup NP_057653.3:n.*1472_*1473dup
NM_005996.4:c.*1472_*1473dup MANE Select NP_005987.3:n.*1472_*1473dup
NM_016569.4:c.*1472_*1473dup NP_057653.3:n.*1472_*1473dup