Canonical Allele Identifier: CA658799437

Gene: DYRK1A

Linked Data

• ClinVar Variation Id: 520853
• ClinVar RCV Id: RCV000622636 ; RCV001265239 ; RCV001376170
• dbSNP Id: rs1555984102
• MyVariant Identifiers: chr21:g.38862497_38862498del (hg19) ; chr21:g.37490195_37490196del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37490195_37490196del , CM000683.2:g.37490195_37490196del	GRCh38
NC_000021.8:g.38862497_38862498del , CM000683.1:g.38862497_38862498del	GRCh37
NC_000021.7:g.37784367_37784368del	NCBI36
NG_009366.1:g.127639_127640del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338785.8:c.685_686del	ENSP00000342690.3:p.Met229ValfsTer10
ENST00000398960.7:c.685_686del	ENSP00000381932.2:p.Met229ValfsTer10
ENST00000642309.1:c.571_572del	ENSP00000495596.1:p.Met191ValfsTer10
ENST00000643624.1:c.658_659del	ENSP00000493627.1:p.Met220ValfsTer10
ENST00000643808.1:n.488_489del
ENST00000643854.1:c.571_572del	ENSP00000493653.1:p.Met191ValfsTer10
ENST00000644367.1:n.49_50del
ENST00000644942.1:c.685_686del	ENSP00000494544.1:p.Met229ValfsTer10
ENST00000645424.1:c.685_686del	ENSP00000494897.1:p.Met229ValfsTer10
ENST00000645774.1:c.706_707del	ENSP00000494536.1:p.Met236ValfsTer10
ENST00000646224.1:n.100_101del
ENST00000646523.1:c.685_686del	ENSP00000495632.1:p.Met229ValfsTer10
ENST00000646548.1:c.658_659del	ENSP00000495908.1:p.Met220ValfsTer10
ENST00000647188.2:c.658_659del MANE Select	ENSP00000494572.1:p.Met220ValfsTer10
ENST00000647425.1:c.658_659del	ENSP00000496748.1:p.Met220ValfsTer10
ENST00000647504.1:c.571_572del	ENSP00000495571.1:p.Met191ValfsTer10
ENST00000338785.7:c.685_686del	ENSP00000342690.3:p.Met229ValfsTer10
ENST00000339659.8:c.658_659del	ENSP00000340373.3:p.Met220ValfsTer10
ENST00000398956.2:c.685_686del	ENSP00000381929.2:p.Met229ValfsTer10
ENST00000398960.6:c.685_686del	ENSP00000381932.2:p.Met229ValfsTer10
NM_001396.3:c.685_686del	NP_001387.2:p.Met229ValfsTer10
NM_101395.2:c.685_686del	NP_567824.1:p.Met229ValfsTer10
NM_130436.2:c.658_659del	NP_569120.1:p.Met220ValfsTer10
NM_130438.2:c.685_686del	NP_569122.1:p.Met229ValfsTer10
XM_005260931.3:c.598_599del	XP_005260988.1:p.Met200ValfsTer10
XM_005260933.3:c.1_2del	XP_005260990.1:p.Met1ValfsTer10
XM_006723976.2:c.685_686del	XP_006724039.1:p.Met229ValfsTer10
XM_006723977.2:c.685_686del	XP_006724040.1:p.Met229ValfsTer10
XM_006723978.2:c.685_686del	XP_006724041.1:p.Met229ValfsTer10
XM_006723979.2:c.658_659del	XP_006724042.1:p.Met220ValfsTer10
XM_011529482.1:c.706_707del	XP_011527784.1:p.Met236ValfsTer10
XM_011529483.1:c.685_686del	XP_011527785.1:p.Met229ValfsTer10
XM_011529484.1:c.679_680del	XP_011527786.1:p.Met227ValfsTer10
XM_011529485.1:c.571_572del	XP_011527787.1:p.Met191ValfsTer10
NM_001347721.1:c.658_659del	NP_001334650.1:p.Met220ValfsTer10
NM_001347722.1:c.658_659del	NP_001334651.1:p.Met220ValfsTer10
NM_001347723.1:c.571_572del	NP_001334652.1:p.Met191ValfsTer10
NM_001396.4:c.685_686del	NP_001387.2:p.Met229ValfsTer10
XM_005260933.5:c.1_2del	XP_005260990.1:p.Met1ValfsTer10
XM_006723976.3:c.685_686del	XP_006724039.1:p.Met229ValfsTer10
XM_006723977.3:c.685_686del	XP_006724040.1:p.Met229ValfsTer10
XM_006723978.3:c.685_686del	XP_006724041.1:p.Met229ValfsTer10
XM_011529483.2:c.685_686del	XP_011527785.1:p.Met229ValfsTer10
XM_017028284.1:c.658_659del	XP_016883773.1:p.Met220ValfsTer10
XM_017028286.2:c.598_599del	XP_016883775.1:p.Met200ValfsTer10
XM_024452057.1:c.571_572del	XP_024307825.1:p.Met191ValfsTer10
NM_001347721.2:c.658_659del MANE Select	NP_001334650.1:p.Met220ValfsTer10
NM_001347722.2:c.658_659del	NP_001334651.1:p.Met220ValfsTer10
NM_001347723.2:c.571_572del	NP_001334652.1:p.Met191ValfsTer10
NM_001396.5:c.685_686del	NP_001387.2:p.Met229ValfsTer10