Canonical Allele Identifier: CA10640407
Gene: TBX3 HGNC NCBI
TBX3-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 307403
ClinVar RCV Id: RCV000353044 RCV003983007
dbSNP Id: rs57078153
gnomAD v3: 12-114684071-G-GGAGAGAGAGAGA
gnomAD v4: 12-114684071-G-GGAGAGAGAGAGA
MyVariant Identifiers: chr12:g.115121877_115121888dupGAGAGAGAGAGA (hg19) chr12:g.115121876_115121877insGAGAGAGAGAGA (hg19) chr12:g.114684072_114684083dupGAGAGAGAGAGA (hg38) chr12:g.114684071_114684072insGAGAGAGAGAGA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114684084_114684095dup , CM000674.2:g.114684084_114684095dup GRCh38
NC_000012.11:g.115121889_115121900dup , CM000674.1:g.115121889_115121900dup GRCh37
NC_000012.10:g.113606272_113606283dup NCBI36
NG_008315.1:g.5082_5093dup

Transcript Alleles

HGVS Amino-acid change
ENST00000349155.7:c.-883_-872dup (TBX3) MANE Select ENSP00000257567.2:n.-883_-872dup
ENST00000349155.6:c.-883_-872dup (TBX3) ENSP00000257567.2:n.-883_-872dup
NM_005996.3:c.-883_-872dup (TBX3) NP_005987.3:n.-883_-872dup
NM_016569.3:c.-883_-872dup (TBX3) NP_057653.3:n.-883_-872dup
XR_002957433.1:n.114+1450_114+1461dup (TBX3-AS1)
NM_005996.4:c.-883_-872dup (TBX3) MANE Select NP_005987.3:n.-883_-872dup
NM_016569.4:c.-883_-872dup (TBX3) NP_057653.3:n.-883_-872dup
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