Canonical Allele Identifier: CA658799431
Community Standard Title: NM_001347721.2(DYRK1A):c.220dup (p.Gln74ProfsTer5)
Gene: DYRK1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.37478220dup , CM000683.2:g.37478220dup GRCh38
NC_000021.8:g.38850522dup , CM000683.1:g.38850522dup GRCh37
NC_000021.7:g.37772392dup NCBI36
NG_009366.1:g.115664dup

Transcript Alleles

HGVS Amino-acid Change
NM_001347721.2:c.220dup MANE Select NP_001334650.1:p.Gln74ProfsTer5
ENST00000647188.2:c.220dup MANE Select ENSP00000494572.1:p.Gln74ProfsTer5
NM_001347721.1:c.220dup NP_001334650.1:p.Gln74ProfsTer5
NM_001347722.1:c.220dup NP_001334651.1:p.Gln74ProfsTer5
NM_001347722.2:c.220dup NP_001334651.1:p.Gln74ProfsTer5
NM_001347723.1:c.133dup NP_001334652.1:p.Gln45ProfsTer5
NM_001347723.2:c.133dup NP_001334652.1:p.Gln45ProfsTer5
NM_001396.3:c.247dup NP_001387.2:p.Gln83ProfsTer5
NM_001396.4:c.247dup NP_001387.2:p.Gln83ProfsTer5
NM_001396.5:c.247dup NP_001387.2:p.Gln83ProfsTer5
NM_101395.2:c.247dup NP_567824.1:p.Gln83ProfsTer5
NM_130436.2:c.220dup NP_569120.1:p.Gln74ProfsTer5
NM_130438.2:c.247dup NP_569122.1:p.Gln83ProfsTer5
ENST00000338785.7:c.247dup ENSP00000342690.3:p.Gln83ProfsTer5
ENST00000338785.8:c.247dup ENSP00000342690.3:p.Gln83ProfsTer5
ENST00000339659.8:c.220dup ENSP00000340373.3:p.Gln74ProfsTer5
ENST00000398956.2:c.247dup ENSP00000381929.2:p.Gln83ProfsTer5
ENST00000398960.6:c.247dup ENSP00000381932.2:p.Gln83ProfsTer5
ENST00000398960.7:c.247dup ENSP00000381932.2:p.Gln83ProfsTer5
ENST00000426672.5:c.247dup ENSP00000412269.1:p.Gln83ProfsTer5
ENST00000426672.6:c.247dup ENSP00000412269.2:p.Gln83ProfsTer5
ENST00000462274.1:n.905dup
ENST00000462274.2:n.141dup
ENST00000642309.1:c.133dup ENSP00000495596.1:p.Gln45ProfsTer5
ENST00000643551.1:c.220dup ENSP00000494698.1:p.Gln74ProfsTer5
ENST00000643624.1:c.220dup ENSP00000493627.1:p.Gln74ProfsTer5
ENST00000643854.1:c.133dup ENSP00000493653.1:p.Gln45ProfsTer5
ENST00000644942.1:c.247dup ENSP00000494544.1:p.Gln83ProfsTer5
ENST00000645424.1:c.247dup ENSP00000494897.1:p.Gln83ProfsTer5
ENST00000645774.1:c.268dup ENSP00000494536.1:p.Gln90ProfsTer5
ENST00000646523.1:c.247dup ENSP00000495632.1:p.Gln83ProfsTer5
ENST00000646548.1:c.220dup ENSP00000495908.1:p.Gln74ProfsTer5
ENST00000647425.1:c.220dup ENSP00000496748.1:p.Gln74ProfsTer5
ENST00000647504.1:c.133dup ENSP00000495571.1:p.Gln45ProfsTer5
XM_005260931.3:c.160dup XP_005260988.1:p.Gln54ProfsTer5
XM_006723976.2:c.247dup XP_006724039.1:p.Gln83ProfsTer5
XM_006723976.3:c.247dup XP_006724039.1:p.Gln83ProfsTer5
XM_006723977.2:c.247dup XP_006724040.1:p.Gln83ProfsTer5
XM_006723977.3:c.247dup XP_006724040.1:p.Gln83ProfsTer5
XM_006723978.2:c.247dup XP_006724041.1:p.Gln83ProfsTer5
XM_006723978.3:c.247dup XP_006724041.1:p.Gln83ProfsTer5
XM_006723979.2:c.220dup XP_006724042.1:p.Gln74ProfsTer5
XM_011529482.1:c.268dup XP_011527784.1:p.Gln90ProfsTer5
XM_011529483.1:c.247dup XP_011527785.1:p.Gln83ProfsTer5
XM_011529483.2:c.247dup XP_011527785.1:p.Gln83ProfsTer5
XM_011529484.1:c.241dup XP_011527786.1:p.Gln81ProfsTer5
XM_011529485.1:c.133dup XP_011527787.1:p.Gln45ProfsTer5
XM_017028284.1:c.220dup XP_016883773.1:p.Gln74ProfsTer5
XM_017028286.2:c.160dup XP_016883775.1:p.Gln54ProfsTer5
XM_024452057.1:c.133dup XP_024307825.1:p.Gln45ProfsTer5