Canonical Allele Identifier: CA2621129660
Gene: TBX3 HGNC NCBI

Linked Data

gnomAD v4: 12-114672126-G-GACCGGC
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114672132_114672137dup , CM000674.2:g.114672132_114672137dup GRCh38
NC_000012.11:g.115109937_115109942dup , CM000674.1:g.115109937_115109942dup GRCh37
NC_000012.10:g.113594320_113594325dup NCBI36
NG_008315.1:g.17033_17038dup

Transcript Alleles

HGVS Amino-acid change
ENST00000349155.7:c.1881_1886dup MANE Select ENSP00000257567.2:p.Val629_Pro630insProVa...
ENST00000257566.7:c.1941_1946dup ENSP00000257566.3:p.Val649_Pro650insProVa...
ENST00000349155.6:c.1881_1886dup ENSP00000257567.2:p.Val629_Pro630insProVa...
ENST00000613550.1:c.1878_1883dup ENSP00000480048.1:p.Val628_Pro629insProVa...
NM_005996.3:c.1881_1886dup NP_005987.3:p.Val629_Pro630insProVal
NM_016569.3:c.1941_1946dup NP_057653.3:p.Val649_Pro650insProVal
NM_005996.4:c.1881_1886dup MANE Select NP_005987.3:p.Val629_Pro630insProVal
NM_016569.4:c.1941_1946dup NP_057653.3:p.Val649_Pro650insProVal
Search 100 bp 5'
Search 100 bp 3'