Canonical Allele Identifier: CA2365854587

Gene: ADA PKIG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620298_44620324delinsCCTGCAGAGGCTGAAGGTGGCATCCCA , CM000682.2:g.44620298_44620324delinsCCTGCAGAGGCTGAAGGTGGCATCCCA	GRCh38
NC_000020.10:g.43248939_43248965delinsCCTGCAGAGGCTGAAGGTGGCATCCCA , CM000682.1:g.43248939_43248965delinsCCTGCAGAGGCTGAAGGTGGCATCCCA	GRCh37
NC_000020.9:g.42682353_42682379delinsCCTGCAGAGGCTGAAGGTGGCATCCCA	NCBI36
NG_007385.1:g.36412_36438delinsTGGGATGCCACCTTCAGCCTCTGCAGG , LRG_16:g.36412_36438delinsTGGGATGCCACCTTCAGCCTCTGCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.1220_1245+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000536076.2:c.900_925+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000536532.6:c.*196_*221+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000537820.2:c.981_1006+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000539235.6:c.*437_*462+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000695889.1:c.528_553+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000695890.1:n.5164_5190delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000695891.1:c.593_618+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000695927.1:c.1131_1156+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000695949.1:c.978_1003+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000695956.1:c.208_233+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000695957.1:c.*544_*569+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000695991.1:c.591_616+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000695992.1:c.*196_*222delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)	ENSP00000512315.1:n.*196_*222delinsTGGGATGCCACCTTCAGCCTCTGCAG...
ENST00000695993.1:c.1053_1078+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000695994.1:c.*196_*221+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000695995.1:c.663_688+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000695996.1:n.1135_1160+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696003.1:n.2837_2862+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696004.1:n.1837_1863delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696005.1:c.503_529delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696006.1:c.*196_*221+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696007.1:c.980_1005+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696008.1:n.3407_3433delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696017.1:c.1050_1076delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)	ENSP00000512333.1:p.Tyr350=
ENST00000696034.1:c.*196_*221+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696035.1:n.1239_1265delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696036.1:n.1754_1780delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696037.1:n.2730_2755+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696038.1:c.*810_*836delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)	ENSP00000512344.1:n.*810_*836delinsTGGGATGCCACCTTCAGCCTCTGCAG...
ENST00000696039.1:n.1417_1442+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696058.1:c.1050_1075+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696059.1:c.*998_*1023+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696060.1:c.1122_1147+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696061.1:c.1050_1075+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696062.1:c.1116_1141+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696063.1:c.1128_1153+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696064.1:c.900_925+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696065.1:c.375_400+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696072.1:n.408_434delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696073.1:n.1364_1389+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696074.1:n.604_629+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696075.1:c.*1023_*1048+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696076.1:c.1122_1148delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)	ENSP00000512375.1:p.Tyr374=
ENST00000696077.1:c.1047_1072+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696078.1:c.1050_1075+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696079.1:c.1050_1075+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696080.1:c.1053_1078+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696081.1:n.1172_1198delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696082.1:c.1128_1153+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696083.1:n.2010_2035+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696084.1:n.1230_1256delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000696104.1:c.*122_*147+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000372874.9:c.1053_1078+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000372874.8:c.1053_1078+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000372887.5:c.152-3635_152-3609delinsCCTGCAGAGGCTGAAGGTGGCATCCCA (PKIG)	ENSP00000361978.1:n.152-3635_152-3609delinsCCTGCAGAGGCTGAAGGT...
ENST00000464097.5:n.1419_1444+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000492931.5:n.1213_1238+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000536532.5:c.*196_*221+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000537820.1:c.981_1006+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
ENST00000539235.5:c.*437_*462+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
NM_000022.2:c.1053_1078+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG , LRG_16t1:c.1053_1078+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
XM_005260236.2:c.981_1006+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
XM_011528478.1:c.648_673+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
XM_011528479.1:c.648_673+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
XR_244129.1:n.1042_1067+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
NM_000022.3:c.1053_1078+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
NM_001322050.1:c.648_673+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
NM_001322051.1:c.981_1006+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
NR_136160.1:n.1139_1164+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
NM_000022.4:c.1053_1078+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
NM_001322050.2:c.648_673+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
NM_001322051.2:c.981_1006+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)
NR_136160.2:n.1080_1105+1delinsTGGGATGCCACCTTCAGCCTCTGCAGG (ADA)