Canonical Allele Identifier: CA9393088

Gene: TYROBP

Linked Data

• ClinVar Variation Id: 1365726
• ClinVar RCV Id: RCV001961885
• dbSNP Id: rs762708303
• ExAC: 19:36398425 A / AGTCTCCCATCACGATCTCCCAGCACCAGTCTCCCATCAGCAG
• gnomAD v2: 19-36398425-A-AGTCTCCCATCACGATCTCCCAGCACCAGTCTCCCATCAGCAG
• gnomAD v3: 19-35907523-A-AGTCTCCCATCACGATCTCCCAGCACCAGTCTCCCATCAGCAG
• gnomAD v4: 19-35907523-A-AGTCTCCCATCACGATCTCCCAGCACCAGTCTCCCATCAGCAG
• MyVariant Identifiers: chr19:g.36398425_36398426insGTCTCCCATCACGATCTCCCAGCACCAGTCTCCCATCAGCAG (hg19) ; chr19:g.35907523_35907524insGTCTCCCATCACGATCTCCCAGCACCAGTCTCCCATCAGCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35907524_35907525insTCTCCCATCACGATCTCCCAGCACCAGTCTCCCATCAGCAGG , CM000681.2:g.35907524_35907525insTCTCCCATCACGATCTCCCAGCACCAGTCTCCCATCAGCAGG	GRCh38
NC_000019.9:g.36398426_36398427insTCTCCCATCACGATCTCCCAGCACCAGTCTCCCATCAGCAGG , CM000681.1:g.36398426_36398427insTCTCCCATCACGATCTCCCAGCACCAGTCTCCCATCAGCAGG	GRCh37
NC_000019.8:g.41090266_41090267insTCTCCCATCACGATCTCCCAGCACCAGTCTCCCATCAGCAGG	NCBI36
NG_009304.1:g.5761_5762insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC , LRG_607:g.5761_5762insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262629.9:c.151_152insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC MANE Select	ENSP00000262629.3:p.Asp50_Leu51insProAlaAspGlyArgLeuValLeuGly...
ENST00000262629.8:c.151_152insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC	ENSP00000262629.3:p.Asp50_Leu51insProAlaAspGlyArgLeuValLeuGly...
ENST00000424586.7:c.118_119insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC	ENSP00000402371.3:p.Asp39_Leu40insProAlaAspGlyArgLeuValLeuGly...
ENST00000544690.6:c.118_119insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC	ENSP00000445332.1:p.Asp39_Leu40insProAlaAspGlyArgLeuValLeuGly...
ENST00000585626.1:n.218_219insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC
ENST00000585901.6:c.151_152insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC	ENSP00000468608.1:p.Asp50_Leu51insProAlaAspGlyArgLeuValLeuGly...
ENST00000586946.1:c.*36_*37insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC	ENSP00000465656.1:n.*36_*37insCTGCTGATGGGAGACTGGTGCTGGGAGATCG...
ENST00000587837.5:c.*36_*37insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC	ENSP00000465081.1:n.*36_*37insCTGCTGATGGGAGACTGGTGCTGGGAGATCG...
ENST00000588439.1:n.295_296insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC
ENST00000589517.1:c.151_152insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC	ENSP00000468447.1:p.Asp50_Leu51insProAlaAspGlyArgLeuValLeuGly...
NM_001173514.1:c.118_119insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC	NP_001166985.1:p.Asp39_Leu40insProAlaAspGlyArgLeuValLeuGlyAsp...
NM_001173515.1:c.118_119insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC	NP_001166986.1:p.Asp39_Leu40insProAlaAspGlyArgLeuValLeuGlyAsp...
NM_003332.3:c.151_152insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC , LRG_607t1:c.151_152insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC	NP_003323.1:p.Asp50_Leu51insProAlaAspGlyArgLeuValLeuGlyAspArg...
NM_198125.2:c.151_152insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC	NP_937758.1:p.Asp50_Leu51insProAlaAspGlyArgLeuValLeuGlyAspArg...
NR_033390.1:n.192_193insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC
NM_001173514.2:c.118_119insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC	NP_001166985.1:p.Asp39_Leu40insProAlaAspGlyArgLeuValLeuGlyAsp...
NM_001173515.2:c.118_119insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC	NP_001166986.1:p.Asp39_Leu40insProAlaAspGlyArgLeuValLeuGlyAsp...
NM_003332.4:c.151_152insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC MANE Select	NP_003323.1:p.Asp50_Leu51insProAlaAspGlyArgLeuValLeuGlyAspArg...
NM_198125.3:c.151_152insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC	NP_937758.1:p.Asp50_Leu51insProAlaAspGlyArgLeuValLeuGlyAspArg...
NR_033390.2:n.178_179insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC