Canonical Allele Identifier: CA16620998
Gene: DYRK1A HGNC NCBI

Linked Data

ClinVar Variation Id: 422108
ClinVar RCV Id: RCV000478619
dbSNP Id: rs1064795563

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.37486485_37486490del , CM000683.2:g.37486485_37486490del GRCh38
NC_000021.8:g.38858787_38858792del , CM000683.1:g.38858787_38858792del GRCh37
NC_000021.7:g.37780657_37780662del NCBI36
NG_009366.1:g.123929_123934del

Transcript Alleles

HGVS Amino-acid change
ENST00000338785.8:c.535_540del ENSP00000342690.3:p.Arg179_Val180del
ENST00000398960.7:c.535_540del ENSP00000381932.2:p.Arg179_Val180del
ENST00000426672.6:c.535_540del ENSP00000412269.2:p.Arg179_Val180del
ENST00000642309.1:c.421_426del ENSP00000495596.1:p.Arg141_Val142del
ENST00000643355.1:n.224_229del
ENST00000643624.1:c.508_513del ENSP00000493627.1:p.Arg170_Val171del
ENST00000643808.1:n.338_343del
ENST00000643854.1:c.421_426del ENSP00000493653.1:p.Arg141_Val142del
ENST00000644942.1:c.535_540del ENSP00000494544.1:p.Arg179_Val180del
ENST00000645424.1:c.535_540del ENSP00000494897.1:p.Arg179_Val180del
ENST00000645774.1:c.556_561del ENSP00000494536.1:p.Arg186_Val187del
ENST00000646523.1:c.535_540del ENSP00000495632.1:p.Arg179_Val180del
ENST00000646548.1:c.508_513del ENSP00000495908.1:p.Arg170_Val171del
ENST00000647188.2:c.508_513del MANE Select ENSP00000494572.1:p.Arg170_Val171del
ENST00000647425.1:c.508_513del ENSP00000496748.1:p.Arg170_Val171del
ENST00000647504.1:c.421_426del ENSP00000495571.1:p.Arg141_Val142del
ENST00000338785.7:c.535_540del ENSP00000342690.3:p.Arg179_Val180del
ENST00000339659.8:c.508_513del ENSP00000340373.3:p.Arg170_Val171del
ENST00000398956.2:c.535_540del ENSP00000381929.2:p.Arg179_Val180del
ENST00000398960.6:c.535_540del ENSP00000381932.2:p.Arg179_Val180del
NM_001396.3:c.535_540del NP_001387.2:p.Arg179_Val180del
NM_101395.2:c.535_540del NP_567824.1:p.Arg179_Val180del
NM_130436.2:c.508_513del NP_569120.1:p.Arg170_Val171del
NM_130438.2:c.535_540del NP_569122.1:p.Arg179_Val180del
XM_005260931.3:c.448_453del XP_005260988.1:p.Arg150_Val151del
XM_006723976.2:c.535_540del XP_006724039.1:p.Arg179_Val180del
XM_006723977.2:c.535_540del XP_006724040.1:p.Arg179_Val180del
XM_006723978.2:c.535_540del XP_006724041.1:p.Arg179_Val180del
XM_006723979.2:c.508_513del XP_006724042.1:p.Arg170_Val171del
XM_011529482.1:c.556_561del XP_011527784.1:p.Arg186_Val187del
XM_011529483.1:c.535_540del XP_011527785.1:p.Arg179_Val180del
XM_011529484.1:c.529_534del XP_011527786.1:p.Arg177_Val178del
XM_011529485.1:c.421_426del XP_011527787.1:p.Arg141_Val142del
XR_937703.1:n.706+749_706+754del
XR_937704.1:n.617+3062_617+3067del
NM_001347721.1:c.508_513del NP_001334650.1:p.Arg170_Val171del
NM_001347722.1:c.508_513del NP_001334651.1:p.Arg170_Val171del
NM_001347723.1:c.421_426del NP_001334652.1:p.Arg141_Val142del
NM_001396.4:c.535_540del NP_001387.2:p.Arg179_Val180del
XM_006723976.3:c.535_540del XP_006724039.1:p.Arg179_Val180del
XM_006723977.3:c.535_540del XP_006724040.1:p.Arg179_Val180del
XM_006723978.3:c.535_540del XP_006724041.1:p.Arg179_Val180del
XM_011529483.2:c.535_540del XP_011527785.1:p.Arg179_Val180del
XM_017028284.1:c.508_513del XP_016883773.1:p.Arg170_Val171del
XM_017028286.2:c.448_453del XP_016883775.1:p.Arg150_Val151del
XM_024452057.1:c.421_426del XP_024307825.1:p.Arg141_Val142del
XR_001755034.1:n.138+3062_138+3067del
NM_001347721.2:c.508_513del MANE Select NP_001334650.1:p.Arg170_Val171del
NM_001347722.2:c.508_513del NP_001334651.1:p.Arg170_Val171del
NM_001347723.2:c.421_426del NP_001334652.1:p.Arg141_Val142del
NM_001396.5:c.535_540del NP_001387.2:p.Arg179_Val180del