Canonical Allele Identifier: CA16621005
Gene: DYRK1A HGNC NCBI

Linked Data

ClinVar Variation Id: 423948
ClinVar RCV Id: RCV000482944
dbSNP Id: rs1064796713

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.37505515_37505516delinsTCTACA , CM000683.2:g.37505515_37505516delinsTCTACA GRCh38
NC_000021.8:g.38877818_38877819delinsTCTACA , CM000683.1:g.38877818_38877819delinsTCTACA GRCh37
NC_000021.7:g.37799688_37799689delinsTCTACA NCBI36
NG_009366.1:g.142960_142961delinsTCTACA

Transcript Alleles

HGVS Amino-acid change
ENST00000338785.8:c.1472_1473delinsTCTACA ENSP00000342690.3:p.Asn491IlefsTer?
ENST00000398960.7:c.1472_1473delinsTCTACA ENSP00000381932.2:p.Asn491IlefsTer?
ENST00000643624.1:c.1445_1446delinsTCTACA ENSP00000493627.1:p.Asn482IlefsTer?
ENST00000644942.1:c.1472_1473delinsTCTACA ENSP00000494544.1:p.Asn491IlefsTer?
ENST00000645424.1:c.1472_1473delinsTCTACA ENSP00000494897.1:p.Asn491IlefsTer?
ENST00000645774.1:c.1520_1521delinsTCTACA ENSP00000494536.1:p.Asn507IlefsTer?
ENST00000646224.1:n.887_888delinsTCTACA
ENST00000646351.1:n.4190_4191delinsTCTACA
ENST00000646523.1:c.1472_1473delinsTCTACA ENSP00000495632.1:p.Asn491IlefsTer?
ENST00000646548.1:c.1445_1446delinsTCTACA ENSP00000495908.1:p.Asn482IlefsTer?
ENST00000647188.2:c.1445_1446delinsTCTACA MANE Select ENSP00000494572.1:p.Asn482IlefsTer?
ENST00000647425.1:c.1445_1446delinsTCTACA ENSP00000496748.1:p.Asn482IlefsTer?
ENST00000647504.1:c.1358_1359delinsTCTACA ENSP00000495571.1:p.Asn453IlefsTer?
ENST00000338785.7:c.1472_1473delinsTCTACA ENSP00000342690.3:p.Asn491IlefsTer?
ENST00000339659.8:c.1445_1446delinsTCTACA ENSP00000340373.3:p.Asn482IlefsTer?
ENST00000398956.2:c.1472_1473delinsTCTACA ENSP00000381929.2:p.Asn491IlefsTer?
ENST00000398960.6:c.1472_1473delinsTCTACA ENSP00000381932.2:p.Asn491IlefsTer?
NM_001396.3:c.1472_1473delinsTCTACA NP_001387.2:p.Asn491IlefsTer?
NM_101395.2:c.1472_1473delinsTCTACA NP_567824.1:p.Asn491IlefsTer?
NM_130436.2:c.1445_1446delinsTCTACA NP_569120.1:p.Asn482IlefsTer?
NM_130438.2:c.1472_1473delinsTCTACA NP_569122.1:p.Asn491IlefsTer?
XM_005260931.3:c.1385_1386delinsTCTACA XP_005260988.1:p.Asn462IlefsTer?
XM_005260933.3:c.788_789delinsTCTACA XP_005260990.1:p.Asn263IlefsTer?
XM_006723976.2:c.1472_1473delinsTCTACA XP_006724039.1:p.Asn491IlefsTer?
XM_006723977.2:c.1472_1473delinsTCTACA XP_006724040.1:p.Asn491IlefsTer?
XM_006723978.2:c.1472_1473delinsTCTACA XP_006724041.1:p.Asn491IlefsTer?
XM_006723979.2:c.1445_1446delinsTCTACA XP_006724042.1:p.Asn482IlefsTer?
XM_011529482.1:c.1493_1494delinsTCTACA XP_011527784.1:p.Asn498IlefsTer?
XM_011529483.1:c.1472_1473delinsTCTACA XP_011527785.1:p.Asn491IlefsTer?
XM_011529484.1:c.1466_1467delinsTCTACA XP_011527786.1:p.Asn489IlefsTer?
XM_011529485.1:c.1358_1359delinsTCTACA XP_011527787.1:p.Asn453IlefsTer?
NM_001347721.1:c.1445_1446delinsTCTACA NP_001334650.1:p.Asn482IlefsTer?
NM_001347722.1:c.1445_1446delinsTCTACA NP_001334651.1:p.Asn482IlefsTer?
NM_001347723.1:c.1358_1359delinsTCTACA NP_001334652.1:p.Asn453IlefsTer?
NM_001396.4:c.1472_1473delinsTCTACA NP_001387.2:p.Asn491IlefsTer?
XM_005260933.5:c.788_789delinsTCTACA XP_005260990.1:p.Asn263IlefsTer?
XM_006723976.3:c.1472_1473delinsTCTACA XP_006724039.1:p.Asn491IlefsTer?
XM_006723977.3:c.1472_1473delinsTCTACA XP_006724040.1:p.Asn491IlefsTer?
XM_006723978.3:c.1472_1473delinsTCTACA XP_006724041.1:p.Asn491IlefsTer?
XM_011529483.2:c.1472_1473delinsTCTACA XP_011527785.1:p.Asn491IlefsTer?
XM_017028284.1:c.1445_1446delinsTCTACA XP_016883773.1:p.Asn482IlefsTer?
XM_017028286.2:c.1385_1386delinsTCTACA XP_016883775.1:p.Asn462IlefsTer?
XM_024452057.1:c.1358_1359delinsTCTACA XP_024307825.1:p.Asn453IlefsTer?
NM_001347721.2:c.1445_1446delinsTCTACA MANE Select NP_001334650.1:p.Asn482IlefsTer?
NM_001347722.2:c.1445_1446delinsTCTACA NP_001334651.1:p.Asn482IlefsTer?
NM_001347723.2:c.1358_1359delinsTCTACA NP_001334652.1:p.Asn453IlefsTer?
NM_001396.5:c.1472_1473delinsTCTACA NP_001387.2:p.Asn491IlefsTer?