Canonical Allele Identifier: CA2695217427

Gene: TBX3

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114674577_114674584dup , CM000674.2:g.114674577_114674584dup	GRCh38
NC_000012.11:g.115112382_115112389dup , CM000674.1:g.115112382_115112389dup	GRCh37
NC_000012.10:g.113596765_113596772dup	NCBI36
NG_008315.1:g.14584_14591dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.1294_1301dup MANE Select	ENSP00000257567.2:p.Pro437AlafsTer?
ENST00000257566.7:c.1354_1361dup	ENSP00000257566.3:p.Pro457AlafsTer?
ENST00000349155.6:c.1294_1301dup	ENSP00000257567.2:p.Pro437AlafsTer?
ENST00000613550.1:c.1294_1301dup	ENSP00000480048.1:p.Pro437AlafsTer?
NM_005996.3:c.1294_1301dup	NP_005987.3:p.Pro437AlafsTer?
NM_016569.3:c.1354_1361dup	NP_057653.3:p.Pro457AlafsTer?
NM_005996.4:c.1294_1301dup MANE Select	NP_005987.3:p.Pro437AlafsTer?
NM_016569.4:c.1354_1361dup	NP_057653.3:p.Pro457AlafsTer?