Canonical Allele Identifier: CA344730

Gene: TYROBP

Linked Data

• ClinVar Variation Id: 56395
• ClinVar RCV Id: RCV000049808
• dbSNP Id: rs386833840
• ExAC: 19:36398435 TC / T
• gnomAD v2: 19-36398435-TC-T
• gnomAD v3: 19-35907533-TC-T
• gnomAD v4: 19-35907533-TC-T
• MyVariant Identifiers: chr19:g.36398436del (hg19) ; chr19:g.35907534del (hg38)
• PubMed: PMID:10888890 ; PMID:12370476 ; PMID:15883308 ; PMID:17125796 ; PMID:20301376 ; PMID:22082900

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35907534del , CM000681.2:g.35907534del	GRCh38
NC_000019.9:g.36398436del , CM000681.1:g.36398436del	GRCh37
NC_000019.8:g.41090276del	NCBI36
NG_009304.1:g.5751del , LRG_607:g.5751del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262629.9:c.141del MANE Select	ENSP00000262629.3:p.Met48TrpfsTer6
ENST00000262629.8:c.141del	ENSP00000262629.3:p.Met48TrpfsTer6
ENST00000424586.7:c.108del	ENSP00000402371.3:p.Met37TrpfsTer6
ENST00000544690.6:c.108del	ENSP00000445332.1:p.Met37TrpfsTer6
ENST00000585626.1:n.208del
ENST00000585901.6:c.141del	ENSP00000468608.1:p.Met48TrpfsTer6
ENST00000586946.1:c.*26del	ENSP00000465656.1:n.*26del
ENST00000587837.5:c.*26del	ENSP00000465081.1:n.*26del
ENST00000588439.1:n.285del
ENST00000589517.1:c.141del	ENSP00000468447.1:p.Met48TrpfsTer6
NM_001173514.1:c.108del	NP_001166985.1:p.Met37TrpfsTer6
NM_001173515.1:c.108del	NP_001166986.1:p.Met37TrpfsTer6
NM_003332.3:c.141del , LRG_607t1:c.141del	NP_003323.1:p.Met48TrpfsTer6
NM_198125.2:c.141del	NP_937758.1:p.Met48TrpfsTer6
NR_033390.1:n.182del
NM_001173514.2:c.108del	NP_001166985.1:p.Met37TrpfsTer6
NM_001173515.2:c.108del	NP_001166986.1:p.Met37TrpfsTer6
NM_003332.4:c.141del MANE Select	NP_003323.1:p.Met48TrpfsTer6
NM_198125.3:c.141del	NP_937758.1:p.Met48TrpfsTer6
NR_033390.2:n.168del