Canonical Allele Identifier: CA10641077
Gene: TBX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 307342
ClinVar RCV Id: RCV000393502
dbSNP Id: rs761090292
gnomAD v2: 12-115109241-ATT-A
gnomAD v3: 12-114671436-ATT-A
gnomAD v4: 12-114671436-ATT-A
MyVariant Identifiers: chr12:g.115109242_115109243del (hg19) chr12:g.115109244_115109247delinsGT (hg19) chr12:g.114671437_114671438del (hg38) chr12:g.114671439_114671442delinsGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114671439_114671440del , CM000674.2:g.114671439_114671440del GRCh38
NC_000012.11:g.115109244_115109245del , CM000674.1:g.115109244_115109245del GRCh37
NC_000012.10:g.113593627_113593628del NCBI36
NG_008315.1:g.17727_17728del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.*403_*404del MANE Select ENSP00000257567.2:n.*403_*404del
ENST00000257566.7:c.*403_*404del ENSP00000257566.3:n.*403_*404del
ENST00000349155.6:c.*403_*404del ENSP00000257567.2:n.*403_*404del
NM_005996.3:c.*403_*404del NP_005987.3:n.*403_*404del
NM_016569.3:c.*403_*404del NP_057653.3:n.*403_*404del
NM_005996.4:c.*403_*404del MANE Select NP_005987.3:n.*403_*404del
NM_016569.4:c.*403_*404del NP_057653.3:n.*403_*404del
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