Canonical Allele Identifier: CA608055487

Gene: TBX3

Linked Data

• dbSNP Id: rs1475665588
• gnomAD v2: 12-115112621-A-ACCCTCG
• gnomAD v4: 12-114674816-A-ACCCTCG
• MyVariant Identifiers: chr12:g.115112621_115112622insCCCTCG (hg19) ; chr12:g.114674816_114674817insCCCTCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114674818_114674823dup , CM000674.2:g.114674818_114674823dup	GRCh38
NC_000012.11:g.115112623_115112628dup , CM000674.1:g.115112623_115112628dup	GRCh37
NC_000012.10:g.113597006_113597011dup	NCBI36
NG_008315.1:g.14343_14348dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.1053_1058dup MANE Select	ENSP00000257567.2:p.Gly353_Glu354insGluGly
ENST00000257566.7:c.1113_1118dup	ENSP00000257566.3:p.Gly373_Glu374insGluGly
ENST00000349155.6:c.1053_1058dup	ENSP00000257567.2:p.Gly353_Glu354insGluGly
ENST00000613550.1:c.1053_1058dup	ENSP00000480048.1:p.Gly353_Glu354insGluGly
NM_005996.3:c.1053_1058dup	NP_005987.3:p.Gly353_Glu354insGluGly
NM_016569.3:c.1113_1118dup	NP_057653.3:p.Gly373_Glu374insGluGly
NM_005996.4:c.1053_1058dup MANE Select	NP_005987.3:p.Gly353_Glu354insGluGly
NM_016569.4:c.1113_1118dup	NP_057653.3:p.Gly373_Glu374insGluGly