Canonical Allele Identifier: CA952074344

Gene: TBX3

Linked Data

• dbSNP Id: rs1868632053
• gnomAD v3: 12-114674769-GCC-G
• gnomAD v4: 12-114674769-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114674770_114674771del , CM000674.2:g.114674770_114674771del	GRCh38
NC_000012.11:g.115112575_115112576del , CM000674.1:g.115112575_115112576del	GRCh37
NC_000012.10:g.113596958_113596959del	NCBI36
NG_008315.1:g.14394_14395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.1104_1105del MANE Select	ENSP00000257567.2:p.Glu368AspfsTer18
ENST00000257566.7:c.1164_1165del	ENSP00000257566.3:p.Glu388AspfsTer18
ENST00000349155.6:c.1104_1105del	ENSP00000257567.2:p.Glu368AspfsTer18
ENST00000613550.1:c.1104_1105del	ENSP00000480048.1:p.Glu368AspfsTer18
NM_005996.3:c.1104_1105del	NP_005987.3:p.Glu368AspfsTer18
NM_016569.3:c.1164_1165del	NP_057653.3:p.Glu388AspfsTer18
NM_005996.4:c.1104_1105del MANE Select	NP_005987.3:p.Glu368AspfsTer18
NM_016569.4:c.1164_1165del	NP_057653.3:p.Glu388AspfsTer18