Canonical Allele Identifier: CA2586967684
Gene: TBX19 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168293248_168293251del , CM000663.2:g.168293248_168293251del GRCh38
NC_000001.10:g.168262486_168262489del , CM000663.1:g.168262486_168262489del GRCh37
NC_000001.9:g.166529110_166529113del NCBI36
NG_008244.1:g.17209_17212del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.573_576del MANE Select ENSP00000356795.3:p.Phe191LeufsTer3
ENST00000367821.7:c.573_576del ENSP00000356795.3:p.Phe191LeufsTer3
ENST00000431969.5:c.370_373del
NM_005149.2:c.573_576del NP_005140.1:p.Phe191LeufsTer3
NM_005149.3:c.573_576del MANE Select NP_005140.1:p.Phe191LeufsTer3
Search 100 bp 5'
Search 100 bp 3'