Canonical Allele Identifier: CA2739277325

Gene: TBX3

Linked Data

• ClinVar Variation Id: 2896872
• ClinVar RCV Id: RCV003619643

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114674777_114674778delinsAA , CM000674.2:g.114674777_114674778delinsAA	GRCh38
NC_000012.11:g.115112582_115112583delinsAA , CM000674.1:g.115112582_115112583delinsAA	GRCh37
NC_000012.10:g.113596965_113596966delinsAA	NCBI36
NG_008315.1:g.14387_14388delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.1097_1098delinsTT MANE Select	ENSP00000257567.2:p.Gly366Val
ENST00000257566.7:c.1157_1158delinsTT	ENSP00000257566.3:p.Gly386Val
ENST00000349155.6:c.1097_1098delinsTT	ENSP00000257567.2:p.Gly366Val
ENST00000613550.1:c.1097_1098delinsTT	ENSP00000480048.1:p.Gly366Val
NM_005996.3:c.1097_1098delinsTT	NP_005987.3:p.Gly366Val
NM_016569.3:c.1157_1158delinsTT	NP_057653.3:p.Gly386Val
NM_005996.4:c.1097_1098delinsTT MANE Select	NP_005987.3:p.Gly366Val
NM_016569.4:c.1157_1158delinsTT	NP_057653.3:p.Gly386Val