Canonical Allele Identifier: CA16621008
Gene: DYRK1A HGNC NCBI

Linked Data

ClinVar Variation Id: 421699
ClinVar RCV Id: RCV000486329
dbSNP Id: rs1064795305
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.37512452_37512457delinsAGAG , CM000683.2:g.37512452_37512457delinsAGAG GRCh38
NC_000021.8:g.38884755_38884760delinsAGAG , CM000683.1:g.38884755_38884760delinsAGAG GRCh37
NC_000021.7:g.37806625_37806630delinsAGAG NCBI36
NG_009366.1:g.149897_149902delinsAGAG

Transcript Alleles

HGVS Amino-acid change
ENST00000338785.8:c.*589_*594delinsAGAG ENSP00000342690.3:n.*589_*594delinsAGAG
ENST00000398960.7:c.2213_2218delinsAGAG ENSP00000381932.2:p.Thr738LysfsTer6
ENST00000643624.1:c.2186_2191delinsAGAG ENSP00000493627.1:p.Thr729LysfsTer6
ENST00000644942.1:c.2213_2218delinsAGAG ENSP00000494544.1:p.Thr738LysfsTer6
ENST00000646224.1:n.1628_1633delinsAGAG
ENST00000646548.1:c.2186_2191delinsAGAG ENSP00000495908.1:p.Thr729LysfsTer6
ENST00000647188.2:c.2186_2191delinsAGAG MANE Select ENSP00000494572.1:p.Thr729LysfsTer6
ENST00000647425.1:c.2186_2191delinsAGAG ENSP00000496748.1:p.Thr729LysfsTer6
ENST00000647504.1:c.2099_2104delinsAGAG ENSP00000495571.1:p.Thr700LysfsTer6
ENST00000338785.7:c.*589_*594delinsAGAG ENSP00000342690.3:n.*589_*594delinsAGAG
ENST00000339659.8:c.2186_2191delinsAGAG ENSP00000340373.3:p.Thr729LysfsTer6
ENST00000398960.6:c.2213_2218delinsAGAG ENSP00000381932.2:p.Thr738LysfsTer6
NM_001396.3:c.2213_2218delinsAGAG NP_001387.2:p.Thr738LysfsTer6
NM_101395.2:c.*589_*594delinsAGAG NP_567824.1:n.*589_*594delinsAGAG
NM_130436.2:c.2186_2191delinsAGAG NP_569120.1:p.Thr729LysfsTer6
NM_130438.2:c.*498_*503delinsAGAG NP_569122.1:n.*498_*503delinsAGAG
XM_005260931.3:c.2126_2131delinsAGAG XP_005260988.1:p.Thr709LysfsTer6
XM_005260933.3:c.1529_1534delinsAGAG XP_005260990.1:p.Thr510LysfsTer6
XM_006723976.2:c.2213_2218delinsAGAG XP_006724039.1:p.Thr738LysfsTer6
XM_006723977.2:c.2213_2218delinsAGAG XP_006724040.1:p.Thr738LysfsTer6
XM_006723978.2:c.2213_2218delinsAGAG XP_006724041.1:p.Thr738LysfsTer6
XM_006723979.2:c.2186_2191delinsAGAG XP_006724042.1:p.Thr729LysfsTer6
XM_011529482.1:c.2234_2239delinsAGAG XP_011527784.1:p.Thr745LysfsTer6
XM_011529483.1:c.2213_2218delinsAGAG XP_011527785.1:p.Thr738LysfsTer6
XM_011529484.1:c.2207_2212delinsAGAG XP_011527786.1:p.Thr736LysfsTer6
XM_011529485.1:c.2099_2104delinsAGAG XP_011527787.1:p.Thr700LysfsTer6
NM_001347721.1:c.2186_2191delinsAGAG NP_001334650.1:p.Thr729LysfsTer6
NM_001347722.1:c.2186_2191delinsAGAG NP_001334651.1:p.Thr729LysfsTer6
NM_001347723.1:c.2099_2104delinsAGAG NP_001334652.1:p.Thr700LysfsTer6
NM_001396.4:c.2213_2218delinsAGAG NP_001387.2:p.Thr738LysfsTer6
XM_005260933.5:c.1529_1534delinsAGAG XP_005260990.1:p.Thr510LysfsTer6
XM_006723976.3:c.2213_2218delinsAGAG XP_006724039.1:p.Thr738LysfsTer6
XM_006723977.3:c.2213_2218delinsAGAG XP_006724040.1:p.Thr738LysfsTer6
XM_006723978.3:c.2213_2218delinsAGAG XP_006724041.1:p.Thr738LysfsTer6
XM_011529483.2:c.2213_2218delinsAGAG XP_011527785.1:p.Thr738LysfsTer6
XM_017028284.1:c.2186_2191delinsAGAG XP_016883773.1:p.Thr729LysfsTer6
XM_017028286.2:c.2126_2131delinsAGAG XP_016883775.1:p.Thr709LysfsTer6
XM_024452057.1:c.2099_2104delinsAGAG XP_024307825.1:p.Thr700LysfsTer6
NM_001347721.2:c.2186_2191delinsAGAG MANE Select NP_001334650.1:p.Thr729LysfsTer6
NM_001347722.2:c.2186_2191delinsAGAG NP_001334651.1:p.Thr729LysfsTer6
NM_001347723.2:c.2099_2104delinsAGAG NP_001334652.1:p.Thr700LysfsTer6
NM_001396.5:c.2213_2218delinsAGAG NP_001387.2:p.Thr738LysfsTer6
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