Canonical Allele Identifier: CA2621130042
Gene: TBX3 HGNC NCBI

Linked Data

gnomAD v4: 12-114674799-G-GCCTCGGCGTCGCTCTCAC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674805_114674822dup , CM000674.2:g.114674805_114674822dup GRCh38
NC_000012.11:g.115112610_115112627dup , CM000674.1:g.115112610_115112627dup GRCh37
NC_000012.10:g.113596993_113597010dup NCBI36
NG_008315.1:g.14348_14365dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1058_1075dup MANE Select ENSP00000257567.2:p.Glu358_Ala359insGlyGluSerAspAlaGlu
ENST00000257566.7:c.1118_1135dup ENSP00000257566.3:p.Glu378_Ala379insGlyGluSerAspAlaGlu
ENST00000349155.6:c.1058_1075dup ENSP00000257567.2:p.Glu358_Ala359insGlyGluSerAspAlaGlu
ENST00000613550.1:c.1058_1075dup ENSP00000480048.1:p.Glu358_Ala359insGlyGluSerAspAlaGlu
NM_005996.3:c.1058_1075dup NP_005987.3:p.Glu358_Ala359insGlyGluSerAspAlaGlu
NM_016569.3:c.1118_1135dup NP_057653.3:p.Glu378_Ala379insGlyGluSerAspAlaGlu
NM_005996.4:c.1058_1075dup MANE Select NP_005987.3:p.Glu358_Ala359insGlyGluSerAspAlaGlu
NM_016569.4:c.1118_1135dup NP_057653.3:p.Glu378_Ala379insGlyGluSerAspAlaGlu
Search 100 bp 5'
Search 100 bp 3'