Canonical Allele Identifier: CA658821906
Gene: TBX19 HGNC NCBI

Linked Data

ClinVar Variation Id: 560673
ClinVar RCV Id: RCV000678895
dbSNP Id: rs1558190339
MyVariant Identifiers: chr1:g.168260459del (hg19) chr1:g.168291221del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168291221del , CM000663.2:g.168291221del GRCh38
NC_000001.10:g.168260459del , CM000663.1:g.168260459del GRCh37
NC_000001.9:g.166527083del NCBI36
NG_008244.1:g.15182del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367821.8:c.265del MANE Select ENSP00000356795.3:p.Leu89SerfsTer?
ENST00000367821.7:c.265del ENSP00000356795.3:p.Leu89SerfsTer?
ENST00000431969.5:c.62del
NM_005149.2:c.265del NP_005140.1:p.Leu89SerfsTer?
NM_005149.3:c.265del MANE Select NP_005140.1:p.Leu89SerfsTer?
Search 100 bp 5'
Search 100 bp 3'