Canonical Allele Identifier: CA10603681

Gene: DYRK1A

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37480678del , CM000683.2:g.37480678del	GRCh38
NC_000021.8:g.38852980del , CM000683.1:g.38852980del	GRCh37
NC_000021.7:g.37774850del	NCBI36
NG_009366.1:g.118122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338785.8:c.368del	ENSP00000342690.3:p.Gln123ArgfsTer27
ENST00000398960.7:c.368del	ENSP00000381932.2:p.Gln123ArgfsTer27
ENST00000426672.6:c.368del	ENSP00000412269.2:p.Gln123ArgfsTer27
ENST00000462274.2:n.262del
ENST00000642309.1:c.254del	ENSP00000495596.1:p.Gln85ArgfsTer27
ENST00000643355.1:n.57del
ENST00000643624.1:c.341del	ENSP00000493627.1:p.Gln114ArgfsTer27
ENST00000643854.1:c.254del	ENSP00000493653.1:p.Gln85ArgfsTer27
ENST00000644942.1:c.368del	ENSP00000494544.1:p.Gln123ArgfsTer27
ENST00000645424.1:c.368del	ENSP00000494897.1:p.Gln123ArgfsTer27
ENST00000645774.1:c.389del	ENSP00000494536.1:p.Gln130ArgfsTer27
ENST00000646523.1:c.368del	ENSP00000495632.1:p.Gln123ArgfsTer27
ENST00000646548.1:c.341del	ENSP00000495908.1:p.Gln114ArgfsTer27
ENST00000647188.2:c.341del MANE Select	ENSP00000494572.1:p.Gln114ArgfsTer27
ENST00000647425.1:c.341del	ENSP00000496748.1:p.Gln114ArgfsTer27
ENST00000647504.1:c.254del	ENSP00000495571.1:p.Gln85ArgfsTer27
ENST00000338785.7:c.368del	ENSP00000342690.3:p.Gln123ArgfsTer27
ENST00000339659.8:c.341del	ENSP00000340373.3:p.Gln114ArgfsTer27
ENST00000398956.2:c.368del	ENSP00000381929.2:p.Gln123ArgfsTer27
ENST00000398960.6:c.368del	ENSP00000381932.2:p.Gln123ArgfsTer27
ENST00000426672.5:c.368del	ENSP00000412269.1:p.Gln123ArgfsTer?
ENST00000462274.1:n.1026del
NM_001396.3:c.368del	NP_001387.2:p.Gln123ArgfsTer27
NM_101395.2:c.368del	NP_567824.1:p.Gln123ArgfsTer27
NM_130436.2:c.341del	NP_569120.1:p.Gln114ArgfsTer27
NM_130438.2:c.368del	NP_569122.1:p.Gln123ArgfsTer27
XM_005260931.3:c.281del	XP_005260988.1:p.Gln94ArgfsTer27
XM_006723976.2:c.368del	XP_006724039.1:p.Gln123ArgfsTer27
XM_006723977.2:c.368del	XP_006724040.1:p.Gln123ArgfsTer27
XM_006723978.2:c.368del	XP_006724041.1:p.Gln123ArgfsTer27
XM_006723979.2:c.341del	XP_006724042.1:p.Gln114ArgfsTer27
XM_011529482.1:c.389del	XP_011527784.1:p.Gln130ArgfsTer27
XM_011529483.1:c.368del	XP_011527785.1:p.Gln123ArgfsTer27
XM_011529484.1:c.362del	XP_011527786.1:p.Gln121ArgfsTer27
XM_011529485.1:c.254del	XP_011527787.1:p.Gln85ArgfsTer27
XR_937703.1:n.707-1562del
XR_937704.1:n.618-1562del
NM_001347721.1:c.341del	NP_001334650.1:p.Gln114ArgfsTer27
NM_001347722.1:c.341del	NP_001334651.1:p.Gln114ArgfsTer27
NM_001347723.1:c.254del	NP_001334652.1:p.Gln85ArgfsTer27
NM_001396.4:c.368del	NP_001387.2:p.Gln123ArgfsTer27
XM_006723976.3:c.368del	XP_006724039.1:p.Gln123ArgfsTer27
XM_006723977.3:c.368del	XP_006724040.1:p.Gln123ArgfsTer27
XM_006723978.3:c.368del	XP_006724041.1:p.Gln123ArgfsTer27
XM_011529483.2:c.368del	XP_011527785.1:p.Gln123ArgfsTer27
XM_017028284.1:c.341del	XP_016883773.1:p.Gln114ArgfsTer27
XM_017028286.2:c.281del	XP_016883775.1:p.Gln94ArgfsTer27
XM_024452057.1:c.254del	XP_024307825.1:p.Gln85ArgfsTer27
XR_001755034.1:n.139-1562del
NM_001347721.2:c.341del MANE Select	NP_001334650.1:p.Gln114ArgfsTer27
NM_001347722.2:c.341del	NP_001334651.1:p.Gln114ArgfsTer27
NM_001347723.2:c.254del	NP_001334652.1:p.Gln85ArgfsTer27
NM_001396.5:c.368del	NP_001387.2:p.Gln123ArgfsTer27