Canonical Allele Identifier: CA2621130030
Gene: TBX3 HGNC NCBI

Linked Data

gnomAD v4: 12-114674663-G-GTCCCGGGGCCGC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674666_114674677dup , CM000674.2:g.114674666_114674677dup GRCh38
NC_000012.11:g.115112471_115112482dup , CM000674.1:g.115112471_115112482dup GRCh37
NC_000012.10:g.113596854_113596865dup NCBI36
NG_008315.1:g.14490_14501dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1200_1211dup MANE Select ENSP00000257567.2:p.Arg403_Asp404insGluArgProArg
ENST00000257566.7:c.1260_1271dup ENSP00000257566.3:p.Arg423_Asp424insGluArgProArg
ENST00000349155.6:c.1200_1211dup ENSP00000257567.2:p.Arg403_Asp404insGluArgProArg
ENST00000613550.1:c.1200_1211dup ENSP00000480048.1:p.Arg403_Asp404insGluArgProArg
NM_005996.3:c.1200_1211dup NP_005987.3:p.Arg403_Asp404insGluArgProArg
NM_016569.3:c.1260_1271dup NP_057653.3:p.Arg423_Asp424insGluArgProArg
NM_005996.4:c.1200_1211dup MANE Select NP_005987.3:p.Arg403_Asp404insGluArgProArg
NM_016569.4:c.1260_1271dup NP_057653.3:p.Arg423_Asp424insGluArgProArg
Search 100 bp 5'
Search 100 bp 3'