Canonical Allele Identifier: CA10023802

Gene: DYRK1A

Linked Data

• dbSNP Id: rs766140525
• ExAC: 21:38858740 AAT / A
• gnomAD v2: 21-38858740-AAT-A
• gnomAD v4: 21-37486438-AAT-A
• MyVariant Identifiers: chr21:g.38858741_38858742del (hg19) ; chr21:g.37486439_37486440del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37486440_37486441del , CM000683.2:g.37486440_37486441del	GRCh38
NC_000021.8:g.38858742_38858743del , CM000683.1:g.38858742_38858743del	GRCh37
NC_000021.7:g.37780612_37780613del	NCBI36
NG_009366.1:g.123884_123885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338785.8:c.517-27_517-26del	ENSP00000342690.3:n.517-27_517-26del
ENST00000398960.7:c.517-27_517-26del	ENSP00000381932.2:n.517-27_517-26del
ENST00000426672.6:c.517-27_517-26del	ENSP00000412269.2:n.517-27_517-26del
ENST00000642309.1:c.403-27_403-26del	ENSP00000495596.1:n.403-27_403-26del
ENST00000643355.1:n.206-27_206-26del
ENST00000643624.1:c.490-27_490-26del	ENSP00000493627.1:n.490-27_490-26del
ENST00000643808.1:n.293_294del
ENST00000643854.1:c.403-27_403-26del	ENSP00000493653.1:n.403-27_403-26del
ENST00000644942.1:c.517-27_517-26del	ENSP00000494544.1:n.517-27_517-26del
ENST00000645424.1:c.517-27_517-26del	ENSP00000494897.1:n.517-27_517-26del
ENST00000645774.1:c.538-27_538-26del	ENSP00000494536.1:n.538-27_538-26del
ENST00000646523.1:c.517-27_517-26del	ENSP00000495632.1:n.517-27_517-26del
ENST00000646548.1:c.490-27_490-26del	ENSP00000495908.1:n.490-27_490-26del
ENST00000647188.2:c.490-27_490-26del MANE Select	ENSP00000494572.1:n.490-27_490-26del
ENST00000647425.1:c.490-27_490-26del	ENSP00000496748.1:n.490-27_490-26del
ENST00000647504.1:c.403-27_403-26del	ENSP00000495571.1:n.403-27_403-26del
ENST00000338785.7:c.517-27_517-26del	ENSP00000342690.3:n.517-27_517-26del
ENST00000339659.8:c.490-27_490-26del	ENSP00000340373.3:n.490-27_490-26del
ENST00000398956.2:c.517-27_517-26del	ENSP00000381929.2:n.517-27_517-26del
ENST00000398960.6:c.517-27_517-26del	ENSP00000381932.2:n.517-27_517-26del
ENST00000462274.1:n.1175-27_1175-26del
NM_001396.3:c.517-27_517-26del	NP_001387.2:n.517-27_517-26del
NM_101395.2:c.517-27_517-26del	NP_567824.1:n.517-27_517-26del
NM_130436.2:c.490-27_490-26del	NP_569120.1:n.490-27_490-26del
NM_130438.2:c.517-27_517-26del	NP_569122.1:n.517-27_517-26del
XM_005260931.3:c.430-27_430-26del	XP_005260988.1:n.430-27_430-26del
XM_006723976.2:c.517-27_517-26del	XP_006724039.1:n.517-27_517-26del
XM_006723977.2:c.517-27_517-26del	XP_006724040.1:n.517-27_517-26del
XM_006723978.2:c.517-27_517-26del	XP_006724041.1:n.517-27_517-26del
XM_006723979.2:c.490-27_490-26del	XP_006724042.1:n.490-27_490-26del
XM_011529482.1:c.538-27_538-26del	XP_011527784.1:n.538-27_538-26del
XM_011529483.1:c.517-27_517-26del	XP_011527785.1:n.517-27_517-26del
XM_011529484.1:c.511-27_511-26del	XP_011527786.1:n.511-27_511-26del
XM_011529485.1:c.403-27_403-26del	XP_011527787.1:n.403-27_403-26del
XR_937703.1:n.706+799_706+800del
XR_937704.1:n.617+3112_617+3113del
NM_001347721.1:c.490-27_490-26del	NP_001334650.1:n.490-27_490-26del
NM_001347722.1:c.490-27_490-26del	NP_001334651.1:n.490-27_490-26del
NM_001347723.1:c.403-27_403-26del	NP_001334652.1:n.403-27_403-26del
NM_001396.4:c.517-27_517-26del	NP_001387.2:n.517-27_517-26del
XM_006723976.3:c.517-27_517-26del	XP_006724039.1:n.517-27_517-26del
XM_006723977.3:c.517-27_517-26del	XP_006724040.1:n.517-27_517-26del
XM_006723978.3:c.517-27_517-26del	XP_006724041.1:n.517-27_517-26del
XM_011529483.2:c.517-27_517-26del	XP_011527785.1:n.517-27_517-26del
XM_017028284.1:c.490-27_490-26del	XP_016883773.1:n.490-27_490-26del
XM_017028286.2:c.430-27_430-26del	XP_016883775.1:n.430-27_430-26del
XM_024452057.1:c.403-27_403-26del	XP_024307825.1:n.403-27_403-26del
XR_001755034.1:n.138+3112_138+3113del
NM_001347721.2:c.490-27_490-26del MANE Select	NP_001334650.1:n.490-27_490-26del
NM_001347722.2:c.490-27_490-26del	NP_001334651.1:n.490-27_490-26del
NM_001347723.2:c.403-27_403-26del	NP_001334652.1:n.403-27_403-26del
NM_001396.5:c.517-27_517-26del	NP_001387.2:n.517-27_517-26del