Canonical Allele Identifier: CA890800827
Gene: TBX19 HGNC NCBI

Linked Data

dbSNP Id: rs1170390895
gnomAD v3: 1-168293531-ACTC-A
gnomAD v4: 1-168293531-ACTC-A
MyVariant Identifiers: chr1:g.168262770_168262772del (hg19) chr1:g.168293532_168293534del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168293534_168293536del , CM000663.2:g.168293534_168293536del GRCh38
NC_000001.10:g.168262772_168262774del , CM000663.1:g.168262772_168262774del GRCh37
NC_000001.9:g.166529396_166529398del NCBI36
NG_008244.1:g.17495_17497del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.603+256_603+258del MANE Select ENSP00000356795.3:n.603+256_603+258del
ENST00000367821.7:c.603+256_603+258del ENSP00000356795.3:n.603+256_603+258del
ENST00000431969.5:c.400+256_400+258del
NM_005149.2:c.603+256_603+258del NP_005140.1:n.603+256_603+258del
NM_005149.3:c.603+256_603+258del MANE Select NP_005140.1:n.603+256_603+258del
Search 100 bp 5'
Search 100 bp 3'