Canonical Allele Identifier: CA244155239
Gene: TBX3 HGNC NCBI
TBX3-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs542734700
gnomAD v2: 12-115121067-G-GT
gnomAD v3: 12-114683262-G-GT
gnomAD v4: 12-114683262-G-GT
MyVariant Identifiers: chr12:g.115121067_115121068insT (hg19) chr12:g.114683262_114683263insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114683269dup , CM000674.2:g.114683269dup GRCh38
NC_000012.11:g.115121074dup , CM000674.1:g.115121074dup GRCh37
NC_000012.10:g.113605457dup NCBI36
NG_008315.1:g.5902dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.-63dup (TBX3) MANE Select ENSP00000257567.2:n.-63dup
ENST00000257566.7:c.-63dup (TBX3) ENSP00000257566.3:n.-63dup
ENST00000349155.6:c.-63dup (TBX3) ENSP00000257567.2:n.-63dup
ENST00000552054.1:n.172dup (TBX3)
ENST00000613550.1:c.-63dup (TBX3) ENSP00000480048.1:n.-63dup
NM_005996.3:c.-63dup (TBX3) NP_005987.3:n.-63dup
NM_016569.3:c.-63dup (TBX3) NP_057653.3:n.-63dup
XR_002957433.1:n.114+635dup (TBX3-AS1)
NM_005996.4:c.-63dup (TBX3) MANE Select NP_005987.3:n.-63dup
NM_016569.4:c.-63dup (TBX3) NP_057653.3:n.-63dup
Search 100 bp 5'
Search 100 bp 3'