Canonical Allele Identifier: CA913184828
Gene: TBX3 HGNC NCBI
TBX3-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114682974del , CM000674.2:g.114682974del GRCh38
NC_000012.11:g.115120779del , CM000674.1:g.115120779del GRCh37
NC_000012.10:g.113605162del NCBI36
NG_008315.1:g.6191del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.227del (TBX3) MANE Select ENSP00000257567.2:p.Ile76ThrfsTer12
ENST00000257566.7:c.227del (TBX3) ENSP00000257566.3:p.Ile76ThrfsTer12
ENST00000349155.6:c.227del (TBX3) ENSP00000257567.2:p.Ile76ThrfsTer12
ENST00000552054.1:n.461del (TBX3)
ENST00000613550.1:c.227del (TBX3) ENSP00000480048.1:p.Ile76ThrfsTer12
NM_005996.3:c.227del (TBX3) NP_005987.3:p.Ile76ThrfsTer12
NM_016569.3:c.227del (TBX3) NP_057653.3:p.Ile76ThrfsTer12
XR_002957433.1:n.114+340del (TBX3-AS1)
NM_005996.4:c.227del (TBX3) MANE Select NP_005987.3:p.Ile76ThrfsTer12
NM_016569.4:c.227del (TBX3) NP_057653.3:p.Ile76ThrfsTer12