Canonical Allele Identifier: CA278450

Gene: DYRK1A

Linked Data

• ClinVar Variation Id: 162154
• ClinVar RCV Id: RCV000149560 ; RCV000224418
• dbSNP Id: rs724159950
• MyVariant Identifiers: chr21:g.38858873_38858876delinsGAA (hg19) ; chr21:g.37486571_37486574delinsGAA (hg38)
• PubMed: PMID:25167861 ; PMID:25920557

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37486571_37486574delinsGAA , CM000683.2:g.37486571_37486574delinsGAA	GRCh38
NC_000021.8:g.38858873_38858876delinsGAA , CM000683.1:g.38858873_38858876delinsGAA	GRCh37
NC_000021.7:g.37780743_37780746delinsGAA	NCBI36
NG_009366.1:g.124015_124018delinsGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000338785.8:c.621_624delinsGAA	ENSP00000342690.3:p.Glu208AsnfsTer3
ENST00000398960.7:c.621_624delinsGAA	ENSP00000381932.2:p.Glu208AsnfsTer3
ENST00000642309.1:c.507_510delinsGAA	ENSP00000495596.1:p.Glu170AsnfsTer3
ENST00000643355.1:n.310_313delinsGAA
ENST00000643624.1:c.594_597delinsGAA	ENSP00000493627.1:p.Glu199AsnfsTer3
ENST00000643808.1:n.424_427delinsGAA
ENST00000643854.1:c.507_510delinsGAA	ENSP00000493653.1:p.Glu170AsnfsTer3
ENST00000644942.1:c.621_624delinsGAA	ENSP00000494544.1:p.Glu208AsnfsTer3
ENST00000645424.1:c.621_624delinsGAA	ENSP00000494897.1:p.Glu208AsnfsTer3
ENST00000645774.1:c.642_645delinsGAA	ENSP00000494536.1:p.Glu215AsnfsTer3
ENST00000646523.1:c.621_624delinsGAA	ENSP00000495632.1:p.Glu208AsnfsTer3
ENST00000646548.1:c.594_597delinsGAA	ENSP00000495908.1:p.Glu199AsnfsTer3
ENST00000647188.2:c.594_597delinsGAA MANE Select	ENSP00000494572.1:p.Glu199AsnfsTer3
ENST00000647425.1:c.594_597delinsGAA	ENSP00000496748.1:p.Glu199AsnfsTer3
ENST00000647504.1:c.507_510delinsGAA	ENSP00000495571.1:p.Glu170AsnfsTer3
ENST00000338785.7:c.621_624delinsGAA	ENSP00000342690.3:p.Glu208AsnfsTer3
ENST00000339659.8:c.594_597delinsGAA	ENSP00000340373.3:p.Glu199AsnfsTer3
ENST00000398956.2:c.621_624delinsGAA	ENSP00000381929.2:p.Glu208AsnfsTer3
ENST00000398960.6:c.621_624delinsGAA	ENSP00000381932.2:p.Glu208AsnfsTer3
NM_001396.3:c.621_624delinsGAA	NP_001387.2:p.Glu208AsnfsTer3
NM_101395.2:c.621_624delinsGAA	NP_567824.1:p.Glu208AsnfsTer3
NM_130436.2:c.594_597delinsGAA	NP_569120.1:p.Glu199AsnfsTer3
NM_130438.2:c.621_624delinsGAA	NP_569122.1:p.Glu208AsnfsTer3
XM_005260931.3:c.534_537delinsGAA	XP_005260988.1:p.Glu179AsnfsTer3
XM_006723976.2:c.621_624delinsGAA	XP_006724039.1:p.Glu208AsnfsTer3
XM_006723977.2:c.621_624delinsGAA	XP_006724040.1:p.Glu208AsnfsTer3
XM_006723978.2:c.621_624delinsGAA	XP_006724041.1:p.Glu208AsnfsTer3
XM_006723979.2:c.594_597delinsGAA	XP_006724042.1:p.Glu199AsnfsTer3
XM_011529482.1:c.642_645delinsGAA	XP_011527784.1:p.Glu215AsnfsTer3
XM_011529483.1:c.621_624delinsGAA	XP_011527785.1:p.Glu208AsnfsTer3
XM_011529484.1:c.615_618delinsGAA	XP_011527786.1:p.Glu206AsnfsTer3
XM_011529485.1:c.507_510delinsGAA	XP_011527787.1:p.Glu170AsnfsTer3
XR_937703.1:n.706+665_706+668delinsTTC
XR_937704.1:n.617+2978_617+2981delinsTTC
NM_001347721.1:c.594_597delinsGAA	NP_001334650.1:p.Glu199AsnfsTer3
NM_001347722.1:c.594_597delinsGAA	NP_001334651.1:p.Glu199AsnfsTer3
NM_001347723.1:c.507_510delinsGAA	NP_001334652.1:p.Glu170AsnfsTer3
NM_001396.4:c.621_624delinsGAA	NP_001387.2:p.Glu208AsnfsTer3
XM_006723976.3:c.621_624delinsGAA	XP_006724039.1:p.Glu208AsnfsTer3
XM_006723977.3:c.621_624delinsGAA	XP_006724040.1:p.Glu208AsnfsTer3
XM_006723978.3:c.621_624delinsGAA	XP_006724041.1:p.Glu208AsnfsTer3
XM_011529483.2:c.621_624delinsGAA	XP_011527785.1:p.Glu208AsnfsTer3
XM_017028284.1:c.594_597delinsGAA	XP_016883773.1:p.Glu199AsnfsTer3
XM_017028286.2:c.534_537delinsGAA	XP_016883775.1:p.Glu179AsnfsTer3
XM_024452057.1:c.507_510delinsGAA	XP_024307825.1:p.Glu170AsnfsTer3
XR_001755034.1:n.138+2978_138+2981delinsTTC
NM_001347721.2:c.594_597delinsGAA MANE Select	NP_001334650.1:p.Glu199AsnfsTer3
NM_001347722.2:c.594_597delinsGAA	NP_001334651.1:p.Glu199AsnfsTer3
NM_001347723.2:c.507_510delinsGAA	NP_001334652.1:p.Glu170AsnfsTer3
NM_001396.5:c.621_624delinsGAA	NP_001387.2:p.Glu208AsnfsTer3