Canonical Allele Identifier: CA9871411

Gene: ADA PKIG

Linked Data

• dbSNP Id: rs764692626
• ExAC: 20:43248904 CAG / C
• gnomAD v2: 20-43248904-CAG-C
• gnomAD v3: 20-44620263-CAG-C
• gnomAD v4: 20-44620263-CAG-C
• MyVariant Identifiers: chr20:g.43248905_43248906del (hg19) ; chr20:g.44620264_44620265del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620264_44620265del , CM000682.2:g.44620264_44620265del	GRCh38
NC_000020.10:g.43248905_43248906del , CM000682.1:g.43248905_43248906del	GRCh37
NC_000020.9:g.42682319_42682320del	NCBI36
NG_007385.1:g.36471_36472del , LRG_16:g.36471_36472del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.1245+34_1245+35del (ADA)
ENST00000536076.2:c.925+34_925+35del (ADA)	ENSP00000512234.1:n.925+34_925+35del
ENST00000536532.6:c.*221+34_*221+35del (ADA)	ENSP00000440946.1:n.*221+34_*221+35del
ENST00000537820.2:c.1006+34_1006+35del (ADA)	ENSP00000441818.1:n.1006+34_1006+35del
ENST00000539235.6:c.*462+34_*462+35del (ADA)	ENSP00000446464.1:n.*462+34_*462+35del
ENST00000695889.1:c.553+34_553+35del (ADA)	ENSP00000512240.1:n.553+34_553+35del
ENST00000695890.1:n.5223_5224del (ADA)
ENST00000695891.1:c.618+34_618+35del (ADA)	ENSP00000512241.1:n.618+34_618+35del
ENST00000695927.1:c.1156+34_1156+35del (ADA)	ENSP00000512270.1:n.1156+34_1156+35del
ENST00000695949.1:c.1003+34_1003+35del (ADA)	ENSP00000512281.1:n.1003+34_1003+35del
ENST00000695956.1:c.233+34_233+35del (ADA)
ENST00000695957.1:c.*569+34_*569+35del (ADA)	ENSP00000512286.1:n.*569+34_*569+35del
ENST00000695991.1:c.616+34_616+35del (ADA)	ENSP00000512314.1:n.616+34_616+35del
ENST00000695992.1:c.*255_*256del (ADA)	ENSP00000512315.1:n.*255_*256del
ENST00000695993.1:c.1078+34_1078+35del (ADA)	ENSP00000512316.1:n.1078+34_1078+35del
ENST00000695994.1:c.*221+34_*221+35del (ADA)	ENSP00000512317.1:n.*221+34_*221+35del
ENST00000695995.1:c.688+34_688+35del (ADA)	ENSP00000512318.1:n.688+34_688+35del
ENST00000695996.1:n.1160+34_1160+35del (ADA)
ENST00000696003.1:n.2862+34_2862+35del (ADA)
ENST00000696004.1:n.1896_1897del (ADA)
ENST00000696005.1:c.562_563del (ADA)
ENST00000696006.1:c.*221+34_*221+35del (ADA)	ENSP00000512325.1:n.*221+34_*221+35del
ENST00000696007.1:c.1005+34_1005+35del (ADA)	ENSP00000512326.1:n.1005+34_1005+35del
ENST00000696008.1:n.3466_3467del (ADA)
ENST00000696017.1:c.1109_1110del (ADA)	ENSP00000512333.1:p.Pro370ArgfsTer24
ENST00000696034.1:c.*221+34_*221+35del (ADA)	ENSP00000512343.1:n.*221+34_*221+35del
ENST00000696035.1:n.1298_1299del (ADA)
ENST00000696036.1:n.1813_1814del (ADA)
ENST00000696037.1:n.2755+34_2755+35del (ADA)
ENST00000696038.1:c.*869_*870del (ADA)	ENSP00000512344.1:n.*869_*870del
ENST00000696039.1:n.1442+34_1442+35del (ADA)
ENST00000696058.1:c.1075+34_1075+35del (ADA)	ENSP00000512361.1:n.1075+34_1075+35del
ENST00000696059.1:c.*1023+34_*1023+35del (ADA)	ENSP00000512362.1:n.*1023+34_*1023+35del
ENST00000696060.1:c.1147+34_1147+35del (ADA)	ENSP00000512363.1:n.1147+34_1147+35del
ENST00000696061.1:c.1075+34_1075+35del (ADA)	ENSP00000512364.1:n.1075+34_1075+35del
ENST00000696062.1:c.1141+34_1141+35del (ADA)	ENSP00000512365.1:n.1141+34_1141+35del
ENST00000696063.1:c.1153+34_1153+35del (ADA)	ENSP00000512366.1:n.1153+34_1153+35del
ENST00000696064.1:c.925+34_925+35del (ADA)	ENSP00000512367.1:n.925+34_925+35del
ENST00000696065.1:c.400+34_400+35del (ADA)	ENSP00000512368.1:n.400+34_400+35del
ENST00000696072.1:n.467_468del (ADA)
ENST00000696073.1:n.1389+34_1389+35del (ADA)
ENST00000696074.1:n.629+34_629+35del (ADA)
ENST00000696075.1:c.*1048+34_*1048+35del (ADA)	ENSP00000512374.1:n.*1048+34_*1048+35del
ENST00000696076.1:c.1181_1182del (ADA)	ENSP00000512375.1:p.Pro394ArgfsTer24
ENST00000696077.1:c.1072+34_1072+35del (ADA)	ENSP00000512376.1:n.1072+34_1072+35del
ENST00000696078.1:c.1075+34_1075+35del (ADA)	ENSP00000512377.1:n.1075+34_1075+35del
ENST00000696079.1:c.1075+34_1075+35del (ADA)	ENSP00000512378.1:n.1075+34_1075+35del
ENST00000696080.1:c.1078+34_1078+35del (ADA)	ENSP00000512379.1:n.1078+34_1078+35del
ENST00000696081.1:n.1231_1232del (ADA)
ENST00000696082.1:c.1153+34_1153+35del (ADA)	ENSP00000512380.1:n.1153+34_1153+35del
ENST00000696083.1:n.2035+34_2035+35del (ADA)
ENST00000696084.1:n.1289_1290del (ADA)
ENST00000696104.1:c.*147+34_*147+35del (ADA)	ENSP00000512399.1:n.*147+34_*147+35del
ENST00000372874.9:c.1078+34_1078+35del (ADA) MANE Select	ENSP00000361965.4:n.1078+34_1078+35del
ENST00000372874.8:c.1078+34_1078+35del (ADA)	ENSP00000361965.4:n.1078+34_1078+35del
ENST00000372887.5:c.152-3669_152-3668del (PKIG)	ENSP00000361978.1:n.152-3669_152-3668del
ENST00000464097.5:n.1444+34_1444+35del (ADA)
ENST00000492931.5:n.1238+34_1238+35del (ADA)
ENST00000536532.5:c.*221+34_*221+35del (ADA)	ENSP00000440946.1:n.*221+34_*221+35del
ENST00000537820.1:c.1006+34_1006+35del (ADA)	ENSP00000441818.1:n.1006+34_1006+35del
ENST00000539235.5:c.*462+34_*462+35del (ADA)	ENSP00000446464.1:n.*462+34_*462+35del
NM_000022.2:c.1078+34_1078+35del , LRG_16t1:c.1078+34_1078+35del (ADA)	NP_000013.2:n.1078+34_1078+35del
XM_005260236.2:c.1006+34_1006+35del (ADA)	XP_005260293.1:n.1006+34_1006+35del
XM_011528478.1:c.673+34_673+35del (ADA)	XP_011526780.1:n.673+34_673+35del
XM_011528479.1:c.673+34_673+35del (ADA)	XP_011526781.1:n.673+34_673+35del
XR_244129.1:n.1067+34_1067+35del (ADA)
NM_000022.3:c.1078+34_1078+35del (ADA)	NP_000013.2:n.1078+34_1078+35del
NM_001322050.1:c.673+34_673+35del (ADA)	NP_001308979.1:n.673+34_673+35del
NM_001322051.1:c.1006+34_1006+35del (ADA)	NP_001308980.1:n.1006+34_1006+35del
NR_136160.1:n.1164+34_1164+35del (ADA)
NM_000022.4:c.1078+34_1078+35del (ADA) MANE Select	NP_000013.2:n.1078+34_1078+35del
NM_001322050.2:c.673+34_673+35del (ADA)	NP_001308979.1:n.673+34_673+35del
NM_001322051.2:c.1006+34_1006+35del (ADA)	NP_001308980.1:n.1006+34_1006+35del
NR_136160.2:n.1105+34_1105+35del (ADA)