Canonical Allele Identifier: CA2654483614

Gene: DYRK1A

Linked Data

• gnomAD v4: 21-37512462-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37512466del , CM000683.2:g.37512466del	GRCh38
NC_000021.8:g.38884769del , CM000683.1:g.38884769del	GRCh37
NC_000021.7:g.37806639del	NCBI36
NG_009366.1:g.149911del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338785.8:c.*603del	ENSP00000342690.3:n.*603del
ENST00000398960.7:c.2227del	ENSP00000381932.2:p.Ala743LeufsTer8
ENST00000643624.1:c.2200del	ENSP00000493627.1:p.Ala734LeufsTer8
ENST00000644942.1:c.2227del	ENSP00000494544.1:p.Ala743LeufsTer8
ENST00000646224.1:n.1642del
ENST00000646548.1:c.2200del	ENSP00000495908.1:p.Ala734LeufsTer8
ENST00000647188.2:c.2200del MANE Select	ENSP00000494572.1:p.Ala734LeufsTer8
ENST00000647425.1:c.2200del	ENSP00000496748.1:p.Ala734LeufsTer8
ENST00000647504.1:c.2113del	ENSP00000495571.1:p.Ala705LeufsTer8
ENST00000338785.7:c.*603del	ENSP00000342690.3:n.*603del
ENST00000339659.8:c.2200del	ENSP00000340373.3:p.Ala734LeufsTer8
ENST00000398960.6:c.2227del	ENSP00000381932.2:p.Ala743LeufsTer8
NM_001396.3:c.2227del	NP_001387.2:p.Ala743LeufsTer8
NM_101395.2:c.*603del	NP_567824.1:n.*603del
NM_130436.2:c.2200del	NP_569120.1:p.Ala734LeufsTer8
NM_130438.2:c.*512del	NP_569122.1:n.*512del
XM_005260931.3:c.2140del	XP_005260988.1:p.Ala714LeufsTer8
XM_005260933.3:c.1543del	XP_005260990.1:p.Ala515LeufsTer8
XM_006723976.2:c.2227del	XP_006724039.1:p.Ala743LeufsTer8
XM_006723977.2:c.2227del	XP_006724040.1:p.Ala743LeufsTer8
XM_006723978.2:c.2227del	XP_006724041.1:p.Ala743LeufsTer8
XM_006723979.2:c.2200del	XP_006724042.1:p.Ala734LeufsTer8
XM_011529482.1:c.2248del	XP_011527784.1:p.Ala750LeufsTer8
XM_011529483.1:c.2227del	XP_011527785.1:p.Ala743LeufsTer8
XM_011529484.1:c.2221del	XP_011527786.1:p.Ala741LeufsTer8
XM_011529485.1:c.2113del	XP_011527787.1:p.Ala705LeufsTer8
NM_001347721.1:c.2200del	NP_001334650.1:p.Ala734LeufsTer8
NM_001347722.1:c.2200del	NP_001334651.1:p.Ala734LeufsTer8
NM_001347723.1:c.2113del	NP_001334652.1:p.Ala705LeufsTer8
NM_001396.4:c.2227del	NP_001387.2:p.Ala743LeufsTer8
XM_005260933.5:c.1543del	XP_005260990.1:p.Ala515LeufsTer8
XM_006723976.3:c.2227del	XP_006724039.1:p.Ala743LeufsTer8
XM_006723977.3:c.2227del	XP_006724040.1:p.Ala743LeufsTer8
XM_006723978.3:c.2227del	XP_006724041.1:p.Ala743LeufsTer8
XM_011529483.2:c.2227del	XP_011527785.1:p.Ala743LeufsTer8
XM_017028284.1:c.2200del	XP_016883773.1:p.Ala734LeufsTer8
XM_017028286.2:c.2140del	XP_016883775.1:p.Ala714LeufsTer8
XM_024452057.1:c.2113del	XP_024307825.1:p.Ala705LeufsTer8
NM_001347721.2:c.2200del MANE Select	NP_001334650.1:p.Ala734LeufsTer8
NM_001347722.2:c.2200del	NP_001334651.1:p.Ala734LeufsTer8
NM_001347723.2:c.2113del	NP_001334652.1:p.Ala705LeufsTer8
NM_001396.5:c.2227del	NP_001387.2:p.Ala743LeufsTer8