Canonical Allele Identifier: CA2621130043
Gene: TBX3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674805_114674810dup , CM000674.2:g.114674805_114674810dup GRCh38
NC_000012.11:g.115112610_115112615dup , CM000674.1:g.115112610_115112615dup GRCh37
NC_000012.10:g.113596993_113596998dup NCBI36
NG_008315.1:g.14358_14363dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1068_1073dup MANE Select ENSP00000257567.2:p.Ala357_Glu358insAspAla
ENST00000257566.7:c.1128_1133dup ENSP00000257566.3:p.Ala377_Glu378insAspAla
ENST00000349155.6:c.1068_1073dup ENSP00000257567.2:p.Ala357_Glu358insAspAla
ENST00000613550.1:c.1068_1073dup ENSP00000480048.1:p.Ala357_Glu358insAspAla
NM_005996.3:c.1068_1073dup NP_005987.3:p.Ala357_Glu358insAspAla
NM_016569.3:c.1128_1133dup NP_057653.3:p.Ala377_Glu378insAspAla
NM_005996.4:c.1068_1073dup MANE Select NP_005987.3:p.Ala357_Glu358insAspAla
NM_016569.4:c.1128_1133dup NP_057653.3:p.Ala377_Glu378insAspAla