Canonical Allele Identifier: CA10608661
Gene: TBX19 HGNC NCBI

Linked Data

ClinVar Variation Id: 293465
ClinVar RCV Id: RCV000319043
dbSNP Id: rs57039241
gnomAD v3: 1-168293284-A-AGTGTGTGT
gnomAD v4: 1-168293284-A-AGTGTGTGT
MyVariant Identifiers: chr1:g.168262557_168262564dupGTGTGTGT (hg19) chr1:g.168262564_168262565insGTGTGTGT (hg19) chr1:g.168262526_168262527insGTGTGTGT (hg19) chr1:g.168262522_168262523insGTGTGTGT (hg19) chr1:g.168293319_168293326dupGTGTGTGT (hg38) chr1:g.168293326_168293327insGTGTGTGT (hg38) chr1:g.168293284_168293285insGTGTGTGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168293319_168293326dup , CM000663.2:g.168293319_168293326dup GRCh38
NC_000001.10:g.168262557_168262564dup , CM000663.1:g.168262557_168262564dup GRCh37
NC_000001.9:g.166529181_166529188dup NCBI36
NG_008244.1:g.17280_17287dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.603+41_603+48dup MANE Select ENSP00000356795.3:n.603+41_603+48dup
ENST00000367821.7:c.603+41_603+48dup ENSP00000356795.3:n.603+41_603+48dup
ENST00000431969.5:c.400+41_400+48dup
NM_005149.2:c.603+41_603+48dup NP_005140.1:n.603+41_603+48dup
NM_005149.3:c.603+41_603+48dup MANE Select NP_005140.1:n.603+41_603+48dup
Search 100 bp 5'
Search 100 bp 3'