Canonical Allele Identifier: CA2649007503
Gene: TBX19 HGNC NCBI

Linked Data

gnomAD v4: 1-168293248-CATAG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168293249_168293252del , CM000663.2:g.168293249_168293252del GRCh38
NC_000001.10:g.168262487_168262490del , CM000663.1:g.168262487_168262490del GRCh37
NC_000001.9:g.166529111_166529114del NCBI36
NG_008244.1:g.17210_17213del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.574_577del MANE Select ENSP00000356795.3:p.Ile192ProfsTer2
ENST00000367821.7:c.574_577del ENSP00000356795.3:p.Ile192ProfsTer2
ENST00000431969.5:c.371_374del
NM_005149.2:c.574_577del NP_005140.1:p.Ile192ProfsTer2
NM_005149.3:c.574_577del MANE Select NP_005140.1:p.Ile192ProfsTer2
Search 100 bp 5'
Search 100 bp 3'