Canonical Allele Identifier: CA2621128869
Gene: TBX3 HGNC NCBI

Linked Data

gnomAD v4: 12-114670555-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114670556del , CM000674.2:g.114670556del GRCh38
NC_000012.11:g.115108361del , CM000674.1:g.115108361del GRCh37
NC_000012.10:g.113592744del NCBI36
NG_008315.1:g.18609del

Transcript Alleles

HGVS Amino-acid change
ENST00000349155.7:c.*1285del MANE Select ENSP00000257567.2:n.*1285del
ENST00000257566.7:c.*1285del ENSP00000257566.3:n.*1285del
ENST00000349155.6:c.*1285del ENSP00000257567.2:n.*1285del
NM_005996.3:c.*1285del NP_005987.3:n.*1285del
NM_016569.3:c.*1285del NP_057653.3:n.*1285del
NM_005996.4:c.*1285del MANE Select NP_005987.3:n.*1285del
NM_016569.4:c.*1285del NP_057653.3:n.*1285del
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