Canonical Allele Identifier: CA2388494042

Gene: DYRK1A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37486570_37486574delinsTTGAG , CM000683.2:g.37486570_37486574delinsTTGAG	GRCh38
NC_000021.8:g.38858872_38858876delinsTTGAG , CM000683.1:g.38858872_38858876delinsTTGAG	GRCh37
NC_000021.7:g.37780742_37780746delinsTTGAG	NCBI36
NG_009366.1:g.124014_124018delinsTTGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000338785.8:c.620_624delinsTTGAG	ENSP00000342690.3:p.Leu207=
ENST00000398960.7:c.620_624delinsTTGAG	ENSP00000381932.2:p.Leu207=
ENST00000642309.1:c.506_510delinsTTGAG	ENSP00000495596.1:p.Leu169=
ENST00000643355.1:n.309_313delinsTTGAG
ENST00000643624.1:c.593_597delinsTTGAG	ENSP00000493627.1:p.Leu198=
ENST00000643808.1:n.423_427delinsTTGAG
ENST00000643854.1:c.506_510delinsTTGAG	ENSP00000493653.1:p.Leu169=
ENST00000644942.1:c.620_624delinsTTGAG	ENSP00000494544.1:p.Leu207=
ENST00000645424.1:c.620_624delinsTTGAG	ENSP00000494897.1:p.Leu207=
ENST00000645774.1:c.641_645delinsTTGAG	ENSP00000494536.1:p.Leu214=
ENST00000646523.1:c.620_624delinsTTGAG	ENSP00000495632.1:p.Leu207=
ENST00000646548.1:c.593_597delinsTTGAG	ENSP00000495908.1:p.Leu198=
ENST00000647188.2:c.593_597delinsTTGAG MANE Select	ENSP00000494572.1:p.Leu198=
ENST00000647425.1:c.593_597delinsTTGAG	ENSP00000496748.1:p.Leu198=
ENST00000647504.1:c.506_510delinsTTGAG	ENSP00000495571.1:p.Leu169=
ENST00000338785.7:c.620_624delinsTTGAG	ENSP00000342690.3:p.Leu207=
ENST00000339659.8:c.593_597delinsTTGAG	ENSP00000340373.3:p.Leu198=
ENST00000398956.2:c.620_624delinsTTGAG	ENSP00000381929.2:p.Leu207=
ENST00000398960.6:c.620_624delinsTTGAG	ENSP00000381932.2:p.Leu207=
NM_001396.3:c.620_624delinsTTGAG	NP_001387.2:p.Leu207=
NM_101395.2:c.620_624delinsTTGAG	NP_567824.1:p.Leu207=
NM_130436.2:c.593_597delinsTTGAG	NP_569120.1:p.Leu198=
NM_130438.2:c.620_624delinsTTGAG	NP_569122.1:p.Leu207=
XM_005260931.3:c.533_537delinsTTGAG	XP_005260988.1:p.Leu178=
XM_006723976.2:c.620_624delinsTTGAG	XP_006724039.1:p.Leu207=
XM_006723977.2:c.620_624delinsTTGAG	XP_006724040.1:p.Leu207=
XM_006723978.2:c.620_624delinsTTGAG	XP_006724041.1:p.Leu207=
XM_006723979.2:c.593_597delinsTTGAG	XP_006724042.1:p.Leu198=
XM_011529482.1:c.641_645delinsTTGAG	XP_011527784.1:p.Leu214=
XM_011529483.1:c.620_624delinsTTGAG	XP_011527785.1:p.Leu207=
XM_011529484.1:c.614_618delinsTTGAG	XP_011527786.1:p.Leu205=
XM_011529485.1:c.506_510delinsTTGAG	XP_011527787.1:p.Leu169=
XR_937703.1:n.706+665_706+669delinsCTCAA
XR_937704.1:n.617+2978_617+2982delinsCTCAA
NM_001347721.1:c.593_597delinsTTGAG	NP_001334650.1:p.Leu198=
NM_001347722.1:c.593_597delinsTTGAG	NP_001334651.1:p.Leu198=
NM_001347723.1:c.506_510delinsTTGAG	NP_001334652.1:p.Leu169=
NM_001396.4:c.620_624delinsTTGAG	NP_001387.2:p.Leu207=
XM_006723976.3:c.620_624delinsTTGAG	XP_006724039.1:p.Leu207=
XM_006723977.3:c.620_624delinsTTGAG	XP_006724040.1:p.Leu207=
XM_006723978.3:c.620_624delinsTTGAG	XP_006724041.1:p.Leu207=
XM_011529483.2:c.620_624delinsTTGAG	XP_011527785.1:p.Leu207=
XM_017028284.1:c.593_597delinsTTGAG	XP_016883773.1:p.Leu198=
XM_017028286.2:c.533_537delinsTTGAG	XP_016883775.1:p.Leu178=
XM_024452057.1:c.506_510delinsTTGAG	XP_024307825.1:p.Leu169=
XR_001755034.1:n.138+2978_138+2982delinsCTCAA
NM_001347721.2:c.593_597delinsTTGAG MANE Select	NP_001334650.1:p.Leu198=
NM_001347722.2:c.593_597delinsTTGAG	NP_001334651.1:p.Leu198=
NM_001347723.2:c.506_510delinsTTGAG	NP_001334652.1:p.Leu169=
NM_001396.5:c.620_624delinsTTGAG	NP_001387.2:p.Leu207=