Canonical Allele Identifier: CA2064766880
Gene: TBX3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674773_114674776delinsCGGG , CM000674.2:g.114674773_114674776delinsCGGG GRCh38
NC_000012.11:g.115112578_115112581delinsCGGG , CM000674.1:g.115112578_115112581delinsCGGG GRCh37
NC_000012.10:g.113596961_113596964delinsCGGG NCBI36
NG_008315.1:g.14389_14392delinsCCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1099_1102delinsCCCG MANE Select ENSP00000257567.2:p.Pro367=
ENST00000257566.7:c.1159_1162delinsCCCG ENSP00000257566.3:p.Pro387=
ENST00000349155.6:c.1099_1102delinsCCCG ENSP00000257567.2:p.Pro367=
ENST00000613550.1:c.1099_1102delinsCCCG ENSP00000480048.1:p.Pro367=
NM_005996.3:c.1099_1102delinsCCCG NP_005987.3:p.Pro367=
NM_016569.3:c.1159_1162delinsCCCG NP_057653.3:p.Pro387=
NM_005996.4:c.1099_1102delinsCCCG MANE Select NP_005987.3:p.Pro367=
NM_016569.4:c.1159_1162delinsCCCG NP_057653.3:p.Pro387=
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