Canonical Allele Identifier: CA645608579
Community Standard Title: NM_001347721.2(DYRK1A):c.1278del (p.Arg428AspfsTer14)
Gene: DYRK1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.37505348del , CM000683.2:g.37505348del GRCh38
NC_000021.8:g.38877651del , CM000683.1:g.38877651del GRCh37
NC_000021.7:g.37799521del NCBI36
NG_009366.1:g.142793del

Transcript Alleles

HGVS Amino-acid Change
NM_001347721.2:c.1278del MANE Select NP_001334650.1:p.Arg428AspfsTer14
ENST00000647188.2:c.1278del MANE Select ENSP00000494572.1:p.Arg428AspfsTer14
NM_001347721.1:c.1278del NP_001334650.1:p.Arg428AspfsTer14
NM_001347722.1:c.1278del NP_001334651.1:p.Arg428AspfsTer14
NM_001347722.2:c.1278del NP_001334651.1:p.Arg428AspfsTer14
NM_001347723.1:c.1191del NP_001334652.1:p.Arg399AspfsTer14
NM_001347723.2:c.1191del NP_001334652.1:p.Arg399AspfsTer14
NM_001396.3:c.1305del NP_001387.2:p.Arg437AspfsTer14
NM_001396.4:c.1305del NP_001387.2:p.Arg437AspfsTer14
NM_001396.5:c.1305del NP_001387.2:p.Arg437AspfsTer14
NM_101395.2:c.1305del NP_567824.1:p.Arg437AspfsTer14
NM_130436.2:c.1278del NP_569120.1:p.Arg428AspfsTer14
NM_130438.2:c.1305del NP_569122.1:p.Arg437AspfsTer14
ENST00000338785.7:c.1305del ENSP00000342690.3:p.Arg437AspfsTer14
ENST00000338785.8:c.1305del ENSP00000342690.3:p.Arg437AspfsTer14
ENST00000339659.8:c.1278del ENSP00000340373.3:p.Arg428AspfsTer14
ENST00000398956.2:c.1305del ENSP00000381929.2:p.Arg437AspfsTer14
ENST00000398960.6:c.1305del ENSP00000381932.2:p.Arg437AspfsTer14
ENST00000398960.7:c.1305del ENSP00000381932.2:p.Arg437AspfsTer14
ENST00000642309.1:c.1191del ENSP00000495596.1:p.Arg399AspfsTer?
ENST00000643624.1:c.1278del ENSP00000493627.1:p.Arg428AspfsTer14
ENST00000643808.1:n.1108del
ENST00000643854.1:c.1191del ENSP00000493653.1:p.Arg399AspfsTer?
ENST00000644367.1:n.669del
ENST00000644942.1:c.1305del ENSP00000494544.1:p.Arg437AspfsTer14
ENST00000645424.1:c.1305del ENSP00000494897.1:p.Arg437AspfsTer14
ENST00000645774.1:c.1353del ENSP00000494536.1:p.Arg453AspfsTer14
ENST00000646224.1:n.720del
ENST00000646351.1:n.4023del
ENST00000646523.1:c.1305del ENSP00000495632.1:p.Arg437AspfsTer14
ENST00000646548.1:c.1278del ENSP00000495908.1:p.Arg428AspfsTer14
ENST00000647425.1:c.1278del ENSP00000496748.1:p.Arg428AspfsTer14
ENST00000647504.1:c.1191del ENSP00000495571.1:p.Arg399AspfsTer14
XM_005260931.3:c.1218del XP_005260988.1:p.Arg408AspfsTer14
XM_005260933.3:c.621del XP_005260990.1:p.Arg209AspfsTer14
XM_005260933.5:c.621del XP_005260990.1:p.Arg209AspfsTer14
XM_006723976.2:c.1305del XP_006724039.1:p.Arg437AspfsTer14
XM_006723976.3:c.1305del XP_006724039.1:p.Arg437AspfsTer14
XM_006723977.2:c.1305del XP_006724040.1:p.Arg437AspfsTer14
XM_006723977.3:c.1305del XP_006724040.1:p.Arg437AspfsTer14
XM_006723978.2:c.1305del XP_006724041.1:p.Arg437AspfsTer14
XM_006723978.3:c.1305del XP_006724041.1:p.Arg437AspfsTer14
XM_006723979.2:c.1278del XP_006724042.1:p.Arg428AspfsTer14
XM_011529482.1:c.1326del XP_011527784.1:p.Arg444AspfsTer14
XM_011529483.1:c.1305del XP_011527785.1:p.Arg437AspfsTer14
XM_011529483.2:c.1305del XP_011527785.1:p.Arg437AspfsTer14
XM_011529484.1:c.1299del XP_011527786.1:p.Arg435AspfsTer14
XM_011529485.1:c.1191del XP_011527787.1:p.Arg399AspfsTer14
XM_017028284.1:c.1278del XP_016883773.1:p.Arg428AspfsTer14
XM_017028286.2:c.1218del XP_016883775.1:p.Arg408AspfsTer14
XM_024452057.1:c.1191del XP_024307825.1:p.Arg399AspfsTer14