Canonical Allele Identifier: CA2064790018
Gene: TBX3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114670423_114670427delinsTAGGC , CM000674.2:g.114670423_114670427delinsTAGGC GRCh38
NC_000012.11:g.115108228_115108232delinsTAGGC , CM000674.1:g.115108228_115108232delinsTAGGC GRCh37
NC_000012.10:g.113592611_113592615delinsTAGGC NCBI36
NG_008315.1:g.18738_18742delinsGCCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.*1414_*1418delinsGCCTA MANE Select ENSP00000257567.2:n.*1414_*1418delinsGCCTA
ENST00000257566.7:c.*1414_*1418delinsGCCTA ENSP00000257566.3:n.*1414_*1418delinsGCCTA
ENST00000349155.6:c.*1414_*1418delinsGCCTA ENSP00000257567.2:n.*1414_*1418delinsGCCTA
NM_005996.3:c.*1414_*1418delinsGCCTA NP_005987.3:n.*1414_*1418delinsGCCTA
NM_016569.3:c.*1414_*1418delinsGCCTA NP_057653.3:n.*1414_*1418delinsGCCTA
NM_005996.4:c.*1414_*1418delinsGCCTA MANE Select NP_005987.3:n.*1414_*1418delinsGCCTA
NM_016569.4:c.*1414_*1418delinsGCCTA NP_057653.3:n.*1414_*1418delinsGCCTA