Canonical Allele Identifier: CA16620995
Gene: DYRK1A HGNC NCBI

Linked Data

ClinVar Variation Id: 418949
ClinVar RCV Id: RCV000032825 RCV000483822 RCV001509579
dbSNP Id: rs1064793546
MyVariant Identifiers: chr21:g.38850565_38850566del (hg19) chr21:g.37478263_37478264del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.37478263_37478264del , CM000683.2:g.37478263_37478264del GRCh38
NC_000021.8:g.38850565_38850566del , CM000683.1:g.38850565_38850566del GRCh37
NC_000021.7:g.37772435_37772436del NCBI36
NG_009366.1:g.115707_115708del

Transcript Alleles

HGVS Amino-acid change
ENST00000338785.8:c.290_291del ENSP00000342690.3:p.Ser97CysfsTer2
ENST00000398960.7:c.290_291del ENSP00000381932.2:p.Ser97CysfsTer2
ENST00000426672.6:c.290_291del ENSP00000412269.2:p.Ser97CysfsTer2
ENST00000462274.2:n.184_185del
ENST00000642309.1:c.176_177del ENSP00000495596.1:p.Ser59CysfsTer2
ENST00000643551.1:c.263_264del ENSP00000494698.1:p.Ser88CysfsTer2
ENST00000643624.1:c.263_264del ENSP00000493627.1:p.Ser88CysfsTer2
ENST00000643854.1:c.176_177del ENSP00000493653.1:p.Ser59CysfsTer2
ENST00000644942.1:c.290_291del ENSP00000494544.1:p.Ser97CysfsTer2
ENST00000645424.1:c.290_291del ENSP00000494897.1:p.Ser97CysfsTer2
ENST00000645774.1:c.311_312del ENSP00000494536.1:p.Ser104CysfsTer2
ENST00000646523.1:c.290_291del ENSP00000495632.1:p.Ser97CysfsTer2
ENST00000646548.1:c.263_264del ENSP00000495908.1:p.Ser88CysfsTer2
ENST00000647188.2:c.263_264del MANE Select ENSP00000494572.1:p.Ser88CysfsTer2
ENST00000647425.1:c.263_264del ENSP00000496748.1:p.Ser88CysfsTer2
ENST00000647504.1:c.176_177del ENSP00000495571.1:p.Ser59CysfsTer2
ENST00000338785.7:c.290_291del ENSP00000342690.3:p.Ser97CysfsTer2
ENST00000339659.8:c.263_264del ENSP00000340373.3:p.Ser88CysfsTer2
ENST00000398956.2:c.290_291del ENSP00000381929.2:p.Ser97CysfsTer2
ENST00000398960.6:c.290_291del ENSP00000381932.2:p.Ser97CysfsTer2
ENST00000426672.5:c.290_291del ENSP00000412269.1:p.Ser97CysfsTer2
ENST00000462274.1:n.948_949del
NM_001396.3:c.290_291del NP_001387.2:p.Ser97CysfsTer2
NM_101395.2:c.290_291del NP_567824.1:p.Ser97CysfsTer2
NM_130436.2:c.263_264del NP_569120.1:p.Ser88CysfsTer2
NM_130438.2:c.290_291del NP_569122.1:p.Ser97CysfsTer2
XM_005260931.3:c.203_204del XP_005260988.1:p.Ser68CysfsTer2
XM_006723976.2:c.290_291del XP_006724039.1:p.Ser97CysfsTer2
XM_006723977.2:c.290_291del XP_006724040.1:p.Ser97CysfsTer2
XM_006723978.2:c.290_291del XP_006724041.1:p.Ser97CysfsTer2
XM_006723979.2:c.263_264del XP_006724042.1:p.Ser88CysfsTer2
XM_011529482.1:c.311_312del XP_011527784.1:p.Ser104CysfsTer2
XM_011529483.1:c.290_291del XP_011527785.1:p.Ser97CysfsTer2
XM_011529484.1:c.284_285del XP_011527786.1:p.Ser95CysfsTer2
XM_011529485.1:c.176_177del XP_011527787.1:p.Ser59CysfsTer2
NM_001347721.1:c.263_264del NP_001334650.1:p.Ser88CysfsTer2
NM_001347722.1:c.263_264del NP_001334651.1:p.Ser88CysfsTer2
NM_001347723.1:c.176_177del NP_001334652.1:p.Ser59CysfsTer2
NM_001396.4:c.290_291del NP_001387.2:p.Ser97CysfsTer2
XM_006723976.3:c.290_291del XP_006724039.1:p.Ser97CysfsTer2
XM_006723977.3:c.290_291del XP_006724040.1:p.Ser97CysfsTer2
XM_006723978.3:c.290_291del XP_006724041.1:p.Ser97CysfsTer2
XM_011529483.2:c.290_291del XP_011527785.1:p.Ser97CysfsTer2
XM_017028284.1:c.263_264del XP_016883773.1:p.Ser88CysfsTer2
XM_017028286.2:c.203_204del XP_016883775.1:p.Ser68CysfsTer2
XM_024452057.1:c.176_177del XP_024307825.1:p.Ser59CysfsTer2
NM_001347721.2:c.263_264del MANE Select NP_001334650.1:p.Ser88CysfsTer2
NM_001347722.2:c.263_264del NP_001334651.1:p.Ser88CysfsTer2
NM_001347723.2:c.176_177del NP_001334652.1:p.Ser59CysfsTer2
NM_001396.5:c.290_291del NP_001387.2:p.Ser97CysfsTer2
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