Canonical Allele Identifier: CA2064766976
Gene: TBX3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674801_114674807delinsCTCGGCG , CM000674.2:g.114674801_114674807delinsCTCGGCG GRCh38
NC_000012.11:g.115112606_115112612delinsCTCGGCG , CM000674.1:g.115112606_115112612delinsCTCGGCG GRCh37
NC_000012.10:g.113596989_113596995delinsCTCGGCG NCBI36
NG_008315.1:g.14358_14364delinsCGCCGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1068_1074delinsCGCCGAG MANE Select ENSP00000257567.2:p.Asp356=
ENST00000257566.7:c.1128_1134delinsCGCCGAG ENSP00000257566.3:p.Asp376=
ENST00000349155.6:c.1068_1074delinsCGCCGAG ENSP00000257567.2:p.Asp356=
ENST00000613550.1:c.1068_1074delinsCGCCGAG ENSP00000480048.1:p.Asp356=
NM_005996.3:c.1068_1074delinsCGCCGAG NP_005987.3:p.Asp356=
NM_016569.3:c.1128_1134delinsCGCCGAG NP_057653.3:p.Asp376=
NM_005996.4:c.1068_1074delinsCGCCGAG MANE Select NP_005987.3:p.Asp356=
NM_016569.4:c.1128_1134delinsCGCCGAG NP_057653.3:p.Asp376=