Canonical Allele Identifier: CA278529
Gene: DYRK1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.37496120_37496123del , CM000683.2:g.37496120_37496123del GRCh38
NC_000021.8:g.38868422_38868425del , CM000683.1:g.38868422_38868425del GRCh37
NC_000021.7:g.37790292_37790295del NCBI36
NG_009366.1:g.133564_133567del

Transcript Alleles

HGVS Amino-acid Change
ENST00000338785.8:c.1101_1104del ENSP00000342690.3:p.Asp368ArgfsTer2
ENST00000398960.7:c.1101_1104del ENSP00000381932.2:p.Asp368ArgfsTer2
ENST00000642309.1:c.987_990del ENSP00000495596.1:p.Asp330ArgfsTer2
ENST00000643624.1:c.1074_1077del ENSP00000493627.1:p.Asp359ArgfsTer2
ENST00000643808.1:n.904_907del
ENST00000643854.1:c.987_990del ENSP00000493653.1:p.Asp330ArgfsTer2
ENST00000644367.1:n.465_468del
ENST00000644942.1:c.1101_1104del ENSP00000494544.1:p.Asp368ArgfsTer2
ENST00000645424.1:c.1101_1104del ENSP00000494897.1:p.Asp368ArgfsTer2
ENST00000645774.1:c.1149_1152del ENSP00000494536.1:p.Asp384ArgfsTer2
ENST00000646224.1:n.516_519del
ENST00000646523.1:c.1101_1104del ENSP00000495632.1:p.Asp368ArgfsTer2
ENST00000646548.1:c.1074_1077del ENSP00000495908.1:p.Asp359ArgfsTer2
ENST00000647188.2:c.1074_1077del MANE Select ENSP00000494572.1:p.Asp359ArgfsTer2
ENST00000647425.1:c.1074_1077del ENSP00000496748.1:p.Asp359ArgfsTer2
ENST00000647504.1:c.987_990del ENSP00000495571.1:p.Asp330ArgfsTer2
ENST00000338785.7:c.1101_1104del ENSP00000342690.3:p.Asp368ArgfsTer2
ENST00000339659.8:c.1074_1077del ENSP00000340373.3:p.Asp359ArgfsTer2
ENST00000398956.2:c.1101_1104del ENSP00000381929.2:p.Asp368ArgfsTer2
ENST00000398960.6:c.1101_1104del ENSP00000381932.2:p.Asp368ArgfsTer2
NM_001396.3:c.1101_1104del NP_001387.2:p.Asp368ArgfsTer2
NM_101395.2:c.1101_1104del NP_567824.1:p.Asp368ArgfsTer2
NM_130436.2:c.1074_1077del NP_569120.1:p.Asp359ArgfsTer2
NM_130438.2:c.1101_1104del NP_569122.1:p.Asp368ArgfsTer2
XM_005260931.3:c.1014_1017del XP_005260988.1:p.Asp339ArgfsTer2
XM_005260933.3:c.417_420del XP_005260990.1:p.Asp140ArgfsTer2
XM_006723976.2:c.1101_1104del XP_006724039.1:p.Asp368ArgfsTer2
XM_006723977.2:c.1101_1104del XP_006724040.1:p.Asp368ArgfsTer2
XM_006723978.2:c.1101_1104del XP_006724041.1:p.Asp368ArgfsTer2
XM_006723979.2:c.1074_1077del XP_006724042.1:p.Asp359ArgfsTer2
XM_011529482.1:c.1122_1125del XP_011527784.1:p.Asp375ArgfsTer2
XM_011529483.1:c.1101_1104del XP_011527785.1:p.Asp368ArgfsTer2
XM_011529484.1:c.1095_1098del XP_011527786.1:p.Asp366ArgfsTer2
XM_011529485.1:c.987_990del XP_011527787.1:p.Asp330ArgfsTer2
NM_001347721.1:c.1074_1077del NP_001334650.1:p.Asp359ArgfsTer2
NM_001347722.1:c.1074_1077del NP_001334651.1:p.Asp359ArgfsTer2
NM_001347723.1:c.987_990del NP_001334652.1:p.Asp330ArgfsTer2
NM_001396.4:c.1101_1104del NP_001387.2:p.Asp368ArgfsTer2
XM_005260933.5:c.417_420del XP_005260990.1:p.Asp140ArgfsTer2
XM_006723976.3:c.1101_1104del XP_006724039.1:p.Asp368ArgfsTer2
XM_006723977.3:c.1101_1104del XP_006724040.1:p.Asp368ArgfsTer2
XM_006723978.3:c.1101_1104del XP_006724041.1:p.Asp368ArgfsTer2
XM_011529483.2:c.1101_1104del XP_011527785.1:p.Asp368ArgfsTer2
XM_017028284.1:c.1074_1077del XP_016883773.1:p.Asp359ArgfsTer2
XM_017028286.2:c.1014_1017del XP_016883775.1:p.Asp339ArgfsTer2
XM_024452057.1:c.987_990del XP_024307825.1:p.Asp330ArgfsTer2
NM_001347721.2:c.1074_1077del MANE Select NP_001334650.1:p.Asp359ArgfsTer2
NM_001347722.2:c.1074_1077del NP_001334651.1:p.Asp359ArgfsTer2
NM_001347723.2:c.987_990del NP_001334652.1:p.Asp330ArgfsTer2
NM_001396.5:c.1101_1104del NP_001387.2:p.Asp368ArgfsTer2