Canonical Allele Identifier: CA6809988
Gene: TBX3 HGNC NCBI

Linked Data

dbSNP Id: rs748236654
ExAC: 12:115112551 TGGA / T
gnomAD v2: 12-115112551-TGGA-T
gnomAD v4: 12-114674746-TGGA-T
MyVariant Identifiers: chr12:g.115112552_115112554del (hg19) chr12:g.114674747_114674749del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674748_114674750del , CM000674.2:g.114674748_114674750del GRCh38
NC_000012.11:g.115112553_115112555del , CM000674.1:g.115112553_115112555del GRCh37
NC_000012.10:g.113596936_113596938del NCBI36
NG_008315.1:g.14416_14418del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1126_1128del MANE Select ENSP00000257567.2:p.Ser376del
ENST00000257566.7:c.1186_1188del ENSP00000257566.3:p.Ser396del
ENST00000349155.6:c.1126_1128del ENSP00000257567.2:p.Ser376del
ENST00000613550.1:c.1126_1128del ENSP00000480048.1:p.Ser376del
NM_005996.3:c.1126_1128del NP_005987.3:p.Ser376del
NM_016569.3:c.1186_1188del NP_057653.3:p.Ser396del
NM_005996.4:c.1126_1128del MANE Select NP_005987.3:p.Ser376del
NM_016569.4:c.1186_1188del NP_057653.3:p.Ser396del
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