Canonical Allele Identifier: CA2365854577
Gene: ADA HGNC NCBI
PKIG HGNC NCBI

Linked Data

dbSNP Id: rs2065316285
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44620284_44620285del , CM000682.2:g.44620284_44620285del GRCh38
NC_000020.10:g.43248925_43248926del , CM000682.1:g.43248925_43248926del GRCh37
NC_000020.9:g.42682339_42682340del NCBI36
NG_007385.1:g.36451_36452del , LRG_16:g.36451_36452del

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.1245+14_1245+15del (ADA)
ENST00000536076.2:c.925+14_925+15del (ADA) ENSP00000512234.1:n.925+14_925+15del
ENST00000536532.6:c.*221+14_*221+15del (ADA) ENSP00000440946.1:n.*221+14_*221+15del
ENST00000537820.2:c.1006+14_1006+15del (ADA) ENSP00000441818.1:n.1006+14_1006+15del
ENST00000539235.6:c.*462+14_*462+15del (ADA) ENSP00000446464.1:n.*462+14_*462+15del
ENST00000695889.1:c.553+14_553+15del (ADA) ENSP00000512240.1:n.553+14_553+15del
ENST00000695890.1:n.5203_5204del (ADA)
ENST00000695891.1:c.618+14_618+15del (ADA) ENSP00000512241.1:n.618+14_618+15del
ENST00000695927.1:c.1156+14_1156+15del (ADA) ENSP00000512270.1:n.1156+14_1156+15del
ENST00000695949.1:c.1003+14_1003+15del (ADA) ENSP00000512281.1:n.1003+14_1003+15del
ENST00000695956.1:c.233+14_233+15del (ADA)
ENST00000695957.1:c.*569+14_*569+15del (ADA) ENSP00000512286.1:n.*569+14_*569+15del
ENST00000695991.1:c.616+14_616+15del (ADA) ENSP00000512314.1:n.616+14_616+15del
ENST00000695992.1:c.*235_*236del (ADA) ENSP00000512315.1:n.*235_*236del
ENST00000695993.1:c.1078+14_1078+15del (ADA) ENSP00000512316.1:n.1078+14_1078+15del
ENST00000695994.1:c.*221+14_*221+15del (ADA) ENSP00000512317.1:n.*221+14_*221+15del
ENST00000695995.1:c.688+14_688+15del (ADA) ENSP00000512318.1:n.688+14_688+15del
ENST00000695996.1:n.1160+14_1160+15del (ADA)
ENST00000696003.1:n.2862+14_2862+15del (ADA)
ENST00000696004.1:n.1876_1877del (ADA)
ENST00000696005.1:c.542_543del (ADA)
ENST00000696006.1:c.*221+14_*221+15del (ADA) ENSP00000512325.1:n.*221+14_*221+15del
ENST00000696007.1:c.1005+14_1005+15del (ADA) ENSP00000512326.1:n.1005+14_1005+15del
ENST00000696008.1:n.3446_3447del (ADA)
ENST00000696017.1:c.1089_1090del (ADA) ENSP00000512333.1:p.Gly364AlafsTer?
ENST00000696034.1:c.*221+14_*221+15del (ADA) ENSP00000512343.1:n.*221+14_*221+15del
ENST00000696035.1:n.1278_1279del (ADA)
ENST00000696036.1:n.1793_1794del (ADA)
ENST00000696037.1:n.2755+14_2755+15del (ADA)
ENST00000696038.1:c.*849_*850del (ADA) ENSP00000512344.1:n.*849_*850del
ENST00000696039.1:n.1442+14_1442+15del (ADA)
ENST00000696058.1:c.1075+14_1075+15del (ADA) ENSP00000512361.1:n.1075+14_1075+15del
ENST00000696059.1:c.*1023+14_*1023+15del (ADA) ENSP00000512362.1:n.*1023+14_*1023+15del
ENST00000696060.1:c.1147+14_1147+15del (ADA) ENSP00000512363.1:n.1147+14_1147+15del
ENST00000696061.1:c.1075+14_1075+15del (ADA) ENSP00000512364.1:n.1075+14_1075+15del
ENST00000696062.1:c.1141+14_1141+15del (ADA) ENSP00000512365.1:n.1141+14_1141+15del
ENST00000696063.1:c.1153+14_1153+15del (ADA) ENSP00000512366.1:n.1153+14_1153+15del
ENST00000696064.1:c.925+14_925+15del (ADA) ENSP00000512367.1:n.925+14_925+15del
ENST00000696065.1:c.400+14_400+15del (ADA) ENSP00000512368.1:n.400+14_400+15del
ENST00000696072.1:n.447_448del (ADA)
ENST00000696073.1:n.1389+14_1389+15del (ADA)
ENST00000696074.1:n.629+14_629+15del (ADA)
ENST00000696075.1:c.*1048+14_*1048+15del (ADA) ENSP00000512374.1:n.*1048+14_*1048+15del
ENST00000696076.1:c.1161_1162del (ADA) ENSP00000512375.1:p.Gly388AlafsTer?
ENST00000696077.1:c.1072+14_1072+15del (ADA) ENSP00000512376.1:n.1072+14_1072+15del
ENST00000696078.1:c.1075+14_1075+15del (ADA) ENSP00000512377.1:n.1075+14_1075+15del
ENST00000696079.1:c.1075+14_1075+15del (ADA) ENSP00000512378.1:n.1075+14_1075+15del
ENST00000696080.1:c.1078+14_1078+15del (ADA) ENSP00000512379.1:n.1078+14_1078+15del
ENST00000696081.1:n.1211_1212del (ADA)
ENST00000696082.1:c.1153+14_1153+15del (ADA) ENSP00000512380.1:n.1153+14_1153+15del
ENST00000696083.1:n.2035+14_2035+15del (ADA)
ENST00000696084.1:n.1269_1270del (ADA)
ENST00000696104.1:c.*147+14_*147+15del (ADA) ENSP00000512399.1:n.*147+14_*147+15del
ENST00000372874.9:c.1078+14_1078+15del (ADA) MANE Select ENSP00000361965.4:n.1078+14_1078+15del
ENST00000372874.8:c.1078+14_1078+15del (ADA) ENSP00000361965.4:n.1078+14_1078+15del
ENST00000372887.5:c.152-3649_152-3648del (PKIG) ENSP00000361978.1:n.152-3649_152-3648del
ENST00000464097.5:n.1444+14_1444+15del (ADA)
ENST00000492931.5:n.1238+14_1238+15del (ADA)
ENST00000536532.5:c.*221+14_*221+15del (ADA) ENSP00000440946.1:n.*221+14_*221+15del
ENST00000537820.1:c.1006+14_1006+15del (ADA) ENSP00000441818.1:n.1006+14_1006+15del
ENST00000539235.5:c.*462+14_*462+15del (ADA) ENSP00000446464.1:n.*462+14_*462+15del
NM_000022.2:c.1078+14_1078+15del , LRG_16t1:c.1078+14_1078+15del (ADA) NP_000013.2:n.1078+14_1078+15del
XM_005260236.2:c.1006+14_1006+15del (ADA) XP_005260293.1:n.1006+14_1006+15del
XM_011528478.1:c.673+14_673+15del (ADA) XP_011526780.1:n.673+14_673+15del
XM_011528479.1:c.673+14_673+15del (ADA) XP_011526781.1:n.673+14_673+15del
XR_244129.1:n.1067+14_1067+15del (ADA)
NM_000022.3:c.1078+14_1078+15del (ADA) NP_000013.2:n.1078+14_1078+15del
NM_001322050.1:c.673+14_673+15del (ADA) NP_001308979.1:n.673+14_673+15del
NM_001322051.1:c.1006+14_1006+15del (ADA) NP_001308980.1:n.1006+14_1006+15del
NR_136160.1:n.1164+14_1164+15del (ADA)
NM_000022.4:c.1078+14_1078+15del (ADA) MANE Select NP_000013.2:n.1078+14_1078+15del
NM_001322050.2:c.673+14_673+15del (ADA) NP_001308979.1:n.673+14_673+15del
NM_001322051.2:c.1006+14_1006+15del (ADA) NP_001308980.1:n.1006+14_1006+15del
NR_136160.2:n.1105+14_1105+15del (ADA)
Search 100 bp 5'
Search 100 bp 3'