Canonical Allele Identifier: CA278457
Gene: DYRK1A HGNC NCBI

Linked Data

ClinVar Variation Id: 162161
ClinVar RCV Id: RCV000149567 RCV001260675
dbSNP Id: rs724159956
MyVariant Identifiers: chr21:g.38868553dupG (hg19) chr21:g.37496251dupG (hg38)
PubMed: PMID:25920557
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.37496251dup , CM000683.2:g.37496251dup GRCh38
NC_000021.8:g.38868553dup , CM000683.1:g.38868553dup GRCh37
NC_000021.7:g.37790423dup NCBI36
NG_009366.1:g.133695dup

Transcript Alleles

HGVS Amino-acid change
ENST00000338785.8:c.1232dup ENSP00000342690.3:p.Arg413ThrfsTer10
ENST00000398960.7:c.1232dup ENSP00000381932.2:p.Arg413ThrfsTer10
ENST00000642309.1:c.1118dup ENSP00000495596.1:p.Arg375ThrfsTer10
ENST00000643624.1:c.1205dup ENSP00000493627.1:p.Arg404ThrfsTer10
ENST00000643808.1:n.1035dup
ENST00000643854.1:c.1118dup ENSP00000493653.1:p.Arg375ThrfsTer10
ENST00000644367.1:n.596dup
ENST00000644942.1:c.1232dup ENSP00000494544.1:p.Arg413ThrfsTer10
ENST00000645424.1:c.1232dup ENSP00000494897.1:p.Arg413ThrfsTer10
ENST00000645774.1:c.1280dup ENSP00000494536.1:p.Arg429ThrfsTer10
ENST00000646224.1:n.647dup
ENST00000646523.1:c.1232dup ENSP00000495632.1:p.Arg413ThrfsTer10
ENST00000646548.1:c.1205dup ENSP00000495908.1:p.Arg404ThrfsTer10
ENST00000647188.2:c.1205dup MANE Select ENSP00000494572.1:p.Arg404ThrfsTer10
ENST00000647425.1:c.1205dup ENSP00000496748.1:p.Arg404ThrfsTer10
ENST00000647504.1:c.1118dup ENSP00000495571.1:p.Arg375ThrfsTer10
ENST00000338785.7:c.1232dup ENSP00000342690.3:p.Arg413ThrfsTer10
ENST00000339659.8:c.1205dup ENSP00000340373.3:p.Arg404ThrfsTer10
ENST00000398956.2:c.1232dup ENSP00000381929.2:p.Arg413ThrfsTer10
ENST00000398960.6:c.1232dup ENSP00000381932.2:p.Arg413ThrfsTer10
NM_001396.3:c.1232dup NP_001387.2:p.Arg413ThrfsTer10
NM_101395.2:c.1232dup NP_567824.1:p.Arg413ThrfsTer10
NM_130436.2:c.1205dup NP_569120.1:p.Arg404ThrfsTer10
NM_130438.2:c.1232dup NP_569122.1:p.Arg413ThrfsTer10
XM_005260931.3:c.1145dup XP_005260988.1:p.Arg384ThrfsTer10
XM_005260933.3:c.548dup XP_005260990.1:p.Arg185ThrfsTer10
XM_006723976.2:c.1232dup XP_006724039.1:p.Arg413ThrfsTer10
XM_006723977.2:c.1232dup XP_006724040.1:p.Arg413ThrfsTer10
XM_006723978.2:c.1232dup XP_006724041.1:p.Arg413ThrfsTer10
XM_006723979.2:c.1205dup XP_006724042.1:p.Arg404ThrfsTer10
XM_011529482.1:c.1253dup XP_011527784.1:p.Arg420ThrfsTer10
XM_011529483.1:c.1232dup XP_011527785.1:p.Arg413ThrfsTer10
XM_011529484.1:c.1226dup XP_011527786.1:p.Arg411ThrfsTer10
XM_011529485.1:c.1118dup XP_011527787.1:p.Arg375ThrfsTer10
NM_001347721.1:c.1205dup NP_001334650.1:p.Arg404ThrfsTer10
NM_001347722.1:c.1205dup NP_001334651.1:p.Arg404ThrfsTer10
NM_001347723.1:c.1118dup NP_001334652.1:p.Arg375ThrfsTer10
NM_001396.4:c.1232dup NP_001387.2:p.Arg413ThrfsTer10
XM_005260933.5:c.548dup XP_005260990.1:p.Arg185ThrfsTer10
XM_006723976.3:c.1232dup XP_006724039.1:p.Arg413ThrfsTer10
XM_006723977.3:c.1232dup XP_006724040.1:p.Arg413ThrfsTer10
XM_006723978.3:c.1232dup XP_006724041.1:p.Arg413ThrfsTer10
XM_011529483.2:c.1232dup XP_011527785.1:p.Arg413ThrfsTer10
XM_017028284.1:c.1205dup XP_016883773.1:p.Arg404ThrfsTer10
XM_017028286.2:c.1145dup XP_016883775.1:p.Arg384ThrfsTer10
XM_024452057.1:c.1118dup XP_024307825.1:p.Arg375ThrfsTer10
NM_001347721.2:c.1205dup MANE Select NP_001334650.1:p.Arg404ThrfsTer10
NM_001347722.2:c.1205dup NP_001334651.1:p.Arg404ThrfsTer10
NM_001347723.2:c.1118dup NP_001334652.1:p.Arg375ThrfsTer10
NM_001396.5:c.1232dup NP_001387.2:p.Arg413ThrfsTer10
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