Canonical Allele Identifier: CA2654483260

Gene: DYRK1A

Linked Data

• gnomAD v4: 21-37505543-GCAGTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37505550_37505555del , CM000683.2:g.37505550_37505555del	GRCh38
NC_000021.8:g.38877853_38877858del , CM000683.1:g.38877853_38877858del	GRCh37
NC_000021.7:g.37799723_37799728del	NCBI36
NG_009366.1:g.142995_143000del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338785.8:c.1507_1512del	ENSP00000342690.3:p.Gln503_Ser504del
ENST00000398960.7:c.1507_1512del	ENSP00000381932.2:p.Gln503_Ser504del
ENST00000643624.1:c.1480_1485del	ENSP00000493627.1:p.Gln494_Ser495del
ENST00000644942.1:c.1507_1512del	ENSP00000494544.1:p.Gln503_Ser504del
ENST00000645424.1:c.1507_1512del	ENSP00000494897.1:p.Gln503_Ser504del
ENST00000646224.1:n.922_927del
ENST00000646351.1:n.4225_4230del
ENST00000646523.1:c.1507_1512del	ENSP00000495632.1:p.Gln503_Ser504del
ENST00000646548.1:c.1480_1485del	ENSP00000495908.1:p.Gln494_Ser495del
ENST00000647188.2:c.1480_1485del MANE Select	ENSP00000494572.1:p.Gln494_Ser495del
ENST00000647425.1:c.1480_1485del	ENSP00000496748.1:p.Gln494_Ser495del
ENST00000647504.1:c.1393_1398del	ENSP00000495571.1:p.Gln465_Ser466del
ENST00000338785.7:c.1507_1512del	ENSP00000342690.3:p.Gln503_Ser504del
ENST00000339659.8:c.1480_1485del	ENSP00000340373.3:p.Gln494_Ser495del
ENST00000398956.2:c.1507_1512del	ENSP00000381929.2:p.Gln503_Ser504del
ENST00000398960.6:c.1507_1512del	ENSP00000381932.2:p.Gln503_Ser504del
NM_001396.3:c.1507_1512del	NP_001387.2:p.Gln503_Ser504del
NM_101395.2:c.1507_1512del	NP_567824.1:p.Gln503_Ser504del
NM_130436.2:c.1480_1485del	NP_569120.1:p.Gln494_Ser495del
NM_130438.2:c.1507_1512del	NP_569122.1:p.Gln503_Ser504del
XM_005260931.3:c.1420_1425del	XP_005260988.1:p.Gln474_Ser475del
XM_005260933.3:c.823_828del	XP_005260990.1:p.Gln275_Ser276del
XM_006723976.2:c.1507_1512del	XP_006724039.1:p.Gln503_Ser504del
XM_006723977.2:c.1507_1512del	XP_006724040.1:p.Gln503_Ser504del
XM_006723978.2:c.1507_1512del	XP_006724041.1:p.Gln503_Ser504del
XM_006723979.2:c.1480_1485del	XP_006724042.1:p.Gln494_Ser495del
XM_011529482.1:c.1528_1533del	XP_011527784.1:p.Gln510_Ser511del
XM_011529483.1:c.1507_1512del	XP_011527785.1:p.Gln503_Ser504del
XM_011529484.1:c.1501_1506del	XP_011527786.1:p.Gln501_Ser502del
XM_011529485.1:c.1393_1398del	XP_011527787.1:p.Gln465_Ser466del
NM_001347721.1:c.1480_1485del	NP_001334650.1:p.Gln494_Ser495del
NM_001347722.1:c.1480_1485del	NP_001334651.1:p.Gln494_Ser495del
NM_001347723.1:c.1393_1398del	NP_001334652.1:p.Gln465_Ser466del
NM_001396.4:c.1507_1512del	NP_001387.2:p.Gln503_Ser504del
XM_005260933.5:c.823_828del	XP_005260990.1:p.Gln275_Ser276del
XM_006723976.3:c.1507_1512del	XP_006724039.1:p.Gln503_Ser504del
XM_006723977.3:c.1507_1512del	XP_006724040.1:p.Gln503_Ser504del
XM_006723978.3:c.1507_1512del	XP_006724041.1:p.Gln503_Ser504del
XM_011529483.2:c.1507_1512del	XP_011527785.1:p.Gln503_Ser504del
XM_017028284.1:c.1480_1485del	XP_016883773.1:p.Gln494_Ser495del
XM_017028286.2:c.1420_1425del	XP_016883775.1:p.Gln474_Ser475del
XM_024452057.1:c.1393_1398del	XP_024307825.1:p.Gln465_Ser466del
NM_001347721.2:c.1480_1485del MANE Select	NP_001334650.1:p.Gln494_Ser495del
NM_001347722.2:c.1480_1485del	NP_001334651.1:p.Gln494_Ser495del
NM_001347723.2:c.1393_1398del	NP_001334652.1:p.Gln465_Ser466del
NM_001396.5:c.1507_1512del	NP_001387.2:p.Gln503_Ser504del