Canonical Allele Identifier: CA607635556

Gene: TBX3

Linked Data

• dbSNP Id: rs1411145595
• gnomAD v2: 12-115108107-A-AG
• gnomAD v3: 12-114670302-A-AG
• gnomAD v4: 12-114670302-A-AG
• MyVariant Identifiers: chr12:g.115108107_115108108insG (hg19) ; chr12:g.114670302_114670303insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114670307dup , CM000674.2:g.114670307dup	GRCh38
NC_000012.11:g.115108112dup , CM000674.1:g.115108112dup	GRCh37
NC_000012.10:g.113592495dup	NCBI36
NG_008315.1:g.18862dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.*1538dup MANE Select	ENSP00000257567.2:n.*1538dup
ENST00000257566.7:c.*1538dup	ENSP00000257566.3:n.*1538dup
ENST00000349155.6:c.*1538dup	ENSP00000257567.2:n.*1538dup
NM_005996.3:c.*1538dup	NP_005987.3:n.*1538dup
NM_016569.3:c.*1538dup	NP_057653.3:n.*1538dup
NM_005996.4:c.*1538dup MANE Select	NP_005987.3:n.*1538dup
NM_016569.4:c.*1538dup	NP_057653.3:n.*1538dup