Canonical Allele Identifier: CA645372662

Gene: DYRK1A

Linked Data

• ClinVar Variation Id: 435011
• ClinVar RCV Id: RCV000501673 ; RCV000599528 ; RCV001265140
• dbSNP Id: rs1555984461
• MyVariant Identifiers: chr21:g.38862767_38862770del (hg19) ; chr21:g.37490465_37490468del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37490465_37490468del , CM000683.2:g.37490465_37490468del	GRCh38
NC_000021.8:g.38862767_38862770del , CM000683.1:g.38862767_38862770del	GRCh37
NC_000021.7:g.37784637_37784640del	NCBI36
NG_009366.1:g.127909_127912del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338785.8:c.951+4_951+7del	ENSP00000342690.3:n.951+4_951+7del
ENST00000398960.7:c.951+4_951+7del	ENSP00000381932.2:n.951+4_951+7del
ENST00000642309.1:c.837+4_837+7del	ENSP00000495596.1:n.837+4_837+7del
ENST00000643624.1:c.924+4_924+7del	ENSP00000493627.1:n.924+4_924+7del
ENST00000643808.1:n.754+4_754+7del
ENST00000643854.1:c.837+4_837+7del	ENSP00000493653.1:n.837+4_837+7del
ENST00000644367.1:n.315+4_315+7del
ENST00000644942.1:c.951+4_951+7del	ENSP00000494544.1:n.951+4_951+7del
ENST00000645424.1:c.951+4_951+7del	ENSP00000494897.1:n.951+4_951+7del
ENST00000645774.1:c.972+4_972+7del	ENSP00000494536.1:n.972+4_972+7del
ENST00000646224.1:n.366+4_366+7del
ENST00000646523.1:c.951+4_951+7del	ENSP00000495632.1:n.951+4_951+7del
ENST00000646548.1:c.924+4_924+7del	ENSP00000495908.1:n.924+4_924+7del
ENST00000647188.2:c.924+4_924+7del MANE Select	ENSP00000494572.1:n.924+4_924+7del
ENST00000647425.1:c.924+4_924+7del	ENSP00000496748.1:n.924+4_924+7del
ENST00000647504.1:c.837+4_837+7del	ENSP00000495571.1:n.837+4_837+7del
ENST00000338785.7:c.951+4_951+7del	ENSP00000342690.3:n.951+4_951+7del
ENST00000339659.8:c.924+4_924+7del	ENSP00000340373.3:n.924+4_924+7del
ENST00000398956.2:c.951+4_951+7del	ENSP00000381929.2:n.951+4_951+7del
ENST00000398960.6:c.951+4_951+7del	ENSP00000381932.2:n.951+4_951+7del
NM_001396.3:c.951+4_951+7del	NP_001387.2:n.951+4_951+7del
NM_101395.2:c.951+4_951+7del	NP_567824.1:n.951+4_951+7del
NM_130436.2:c.924+4_924+7del	NP_569120.1:n.924+4_924+7del
NM_130438.2:c.951+4_951+7del	NP_569122.1:n.951+4_951+7del
XM_005260931.3:c.864+4_864+7del	XP_005260988.1:n.864+4_864+7del
XM_005260933.3:c.267+4_267+7del	XP_005260990.1:n.267+4_267+7del
XM_006723976.2:c.951+4_951+7del	XP_006724039.1:n.951+4_951+7del
XM_006723977.2:c.951+4_951+7del	XP_006724040.1:n.951+4_951+7del
XM_006723978.2:c.951+4_951+7del	XP_006724041.1:n.951+4_951+7del
XM_006723979.2:c.924+4_924+7del	XP_006724042.1:n.924+4_924+7del
XM_011529482.1:c.972+4_972+7del	XP_011527784.1:n.972+4_972+7del
XM_011529483.1:c.951+4_951+7del	XP_011527785.1:n.951+4_951+7del
XM_011529484.1:c.945+4_945+7del	XP_011527786.1:n.945+4_945+7del
XM_011529485.1:c.837+4_837+7del	XP_011527787.1:n.837+4_837+7del
NM_001347721.1:c.924+4_924+7del	NP_001334650.1:n.924+4_924+7del
NM_001347722.1:c.924+4_924+7del	NP_001334651.1:n.924+4_924+7del
NM_001347723.1:c.837+4_837+7del	NP_001334652.1:n.837+4_837+7del
NM_001396.4:c.951+4_951+7del	NP_001387.2:n.951+4_951+7del
XM_005260933.5:c.267+4_267+7del	XP_005260990.1:n.267+4_267+7del
XM_006723976.3:c.951+4_951+7del	XP_006724039.1:n.951+4_951+7del
XM_006723977.3:c.951+4_951+7del	XP_006724040.1:n.951+4_951+7del
XM_006723978.3:c.951+4_951+7del	XP_006724041.1:n.951+4_951+7del
XM_011529483.2:c.951+4_951+7del	XP_011527785.1:n.951+4_951+7del
XM_017028284.1:c.924+4_924+7del	XP_016883773.1:n.924+4_924+7del
XM_017028286.2:c.864+4_864+7del	XP_016883775.1:n.864+4_864+7del
XM_024452057.1:c.837+4_837+7del	XP_024307825.1:n.837+4_837+7del
NM_001347721.2:c.924+4_924+7del MANE Select	NP_001334650.1:n.924+4_924+7del
NM_001347722.2:c.924+4_924+7del	NP_001334651.1:n.924+4_924+7del
NM_001347723.2:c.837+4_837+7del	NP_001334652.1:n.837+4_837+7del
NM_001396.5:c.951+4_951+7del	NP_001387.2:n.951+4_951+7del