Canonical Allele Identifier: CA2697547514

Gene: DYRK1A

Linked Data

• ClinVar Variation Id: 2693078
• ClinVar RCV Id: RCV003528484

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37512280del , CM000683.2:g.37512280del	GRCh38
NC_000021.8:g.38884583del , CM000683.1:g.38884583del	GRCh37
NC_000021.7:g.37806453del	NCBI36
NG_009366.1:g.149725del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338785.8:c.*417del	ENSP00000342690.3:n.*417del
ENST00000398960.7:c.2041del	ENSP00000381932.2:p.Gln681ArgfsTer22
ENST00000643624.1:c.2014del	ENSP00000493627.1:p.Gln672ArgfsTer22
ENST00000644942.1:c.2041del	ENSP00000494544.1:p.Gln681ArgfsTer22
ENST00000646224.1:n.1456del
ENST00000646548.1:c.2014del	ENSP00000495908.1:p.Gln672ArgfsTer22
ENST00000647188.2:c.2014del MANE Select	ENSP00000494572.1:p.Gln672ArgfsTer22
ENST00000647425.1:c.2014del	ENSP00000496748.1:p.Gln672ArgfsTer22
ENST00000647504.1:c.1927del	ENSP00000495571.1:p.Gln643ArgfsTer22
ENST00000338785.7:c.*417del	ENSP00000342690.3:n.*417del
ENST00000339659.8:c.2014del	ENSP00000340373.3:p.Gln672ArgfsTer22
ENST00000398960.6:c.2041del	ENSP00000381932.2:p.Gln681ArgfsTer22
NM_001396.3:c.2041del	NP_001387.2:p.Gln681ArgfsTer22
NM_101395.2:c.*417del	NP_567824.1:n.*417del
NM_130436.2:c.2014del	NP_569120.1:p.Gln672ArgfsTer22
NM_130438.2:c.*326del	NP_569122.1:n.*326del
XM_005260931.3:c.1954del	XP_005260988.1:p.Gln652ArgfsTer22
XM_005260933.3:c.1357del	XP_005260990.1:p.Gln453ArgfsTer22
XM_006723976.2:c.2041del	XP_006724039.1:p.Gln681ArgfsTer22
XM_006723977.2:c.2041del	XP_006724040.1:p.Gln681ArgfsTer22
XM_006723978.2:c.2041del	XP_006724041.1:p.Gln681ArgfsTer22
XM_006723979.2:c.2014del	XP_006724042.1:p.Gln672ArgfsTer22
XM_011529482.1:c.2062del	XP_011527784.1:p.Gln688ArgfsTer22
XM_011529483.1:c.2041del	XP_011527785.1:p.Gln681ArgfsTer22
XM_011529484.1:c.2035del	XP_011527786.1:p.Gln679ArgfsTer22
XM_011529485.1:c.1927del	XP_011527787.1:p.Gln643ArgfsTer22
NM_001347721.1:c.2014del	NP_001334650.1:p.Gln672ArgfsTer22
NM_001347722.1:c.2014del	NP_001334651.1:p.Gln672ArgfsTer22
NM_001347723.1:c.1927del	NP_001334652.1:p.Gln643ArgfsTer22
NM_001396.4:c.2041del	NP_001387.2:p.Gln681ArgfsTer22
XM_005260933.5:c.1357del	XP_005260990.1:p.Gln453ArgfsTer22
XM_006723976.3:c.2041del	XP_006724039.1:p.Gln681ArgfsTer22
XM_006723977.3:c.2041del	XP_006724040.1:p.Gln681ArgfsTer22
XM_006723978.3:c.2041del	XP_006724041.1:p.Gln681ArgfsTer22
XM_011529483.2:c.2041del	XP_011527785.1:p.Gln681ArgfsTer22
XM_017028284.1:c.2014del	XP_016883773.1:p.Gln672ArgfsTer22
XM_017028286.2:c.1954del	XP_016883775.1:p.Gln652ArgfsTer22
XM_024452057.1:c.1927del	XP_024307825.1:p.Gln643ArgfsTer22
NM_001347721.2:c.2014del MANE Select	NP_001334650.1:p.Gln672ArgfsTer22
NM_001347722.2:c.2014del	NP_001334651.1:p.Gln672ArgfsTer22
NM_001347723.2:c.1927del	NP_001334652.1:p.Gln643ArgfsTer22
NM_001396.5:c.2041del	NP_001387.2:p.Gln681ArgfsTer22