Canonical Allele Identifier: CA2580098185

Gene: ADA PKIG

Linked Data

• ClinVar Variation Id: 1901445
• ClinVar RCV Id: RCV002576973

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620291G>C , CM000682.2:g.44620291G>C	GRCh38
NC_000020.10:g.43248932G>C , CM000682.1:g.43248932G>C	GRCh37
NC_000020.9:g.42682346G>C	NCBI36
NG_007385.1:g.36445C>G , LRG_16:g.36445C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.1245+8C>G (ADA)
ENST00000536076.2:c.925+8C>G (ADA)	ENSP00000512234.1:n.925+8C>G
ENST00000536532.6:c.*221+8C>G (ADA)	ENSP00000440946.1:n.*221+8C>G
ENST00000537820.2:c.1006+8C>G (ADA)	ENSP00000441818.1:n.1006+8C>G
ENST00000539235.6:c.*462+8C>G (ADA)	ENSP00000446464.1:n.*462+8C>G
ENST00000695889.1:c.553+8C>G (ADA)	ENSP00000512240.1:n.553+8C>G
ENST00000695890.1:n.5197C>G (ADA)
ENST00000695891.1:c.618+8C>G (ADA)	ENSP00000512241.1:n.618+8C>G
ENST00000695927.1:c.1156+8C>G (ADA)	ENSP00000512270.1:n.1156+8C>G
ENST00000695949.1:c.1003+8C>G (ADA)	ENSP00000512281.1:n.1003+8C>G
ENST00000695956.1:c.233+8C>G (ADA)
ENST00000695957.1:c.*569+8C>G (ADA)	ENSP00000512286.1:n.*569+8C>G
ENST00000695991.1:c.616+8C>G (ADA)	ENSP00000512314.1:n.616+8C>G
ENST00000695992.1:c.*229C>G (ADA)	ENSP00000512315.1:n.*229C>G
ENST00000695993.1:c.1078+8C>G (ADA)	ENSP00000512316.1:n.1078+8C>G
ENST00000695994.1:c.*221+8C>G (ADA)	ENSP00000512317.1:n.*221+8C>G
ENST00000695995.1:c.688+8C>G (ADA)	ENSP00000512318.1:n.688+8C>G
ENST00000695996.1:n.1160+8C>G (ADA)
ENST00000696003.1:n.2862+8C>G (ADA)
ENST00000696004.1:n.1870C>G (ADA)
ENST00000696005.1:c.536C>G (ADA)
ENST00000696006.1:c.*221+8C>G (ADA)	ENSP00000512325.1:n.*221+8C>G
ENST00000696007.1:c.1005+8C>G (ADA)	ENSP00000512326.1:n.1005+8C>G
ENST00000696008.1:n.3440C>G (ADA)
ENST00000696017.1:c.1083C>G (ADA)	ENSP00000512333.1:p.Phe361Leu
ENST00000696034.1:c.*221+8C>G (ADA)	ENSP00000512343.1:n.*221+8C>G
ENST00000696035.1:n.1272C>G (ADA)
ENST00000696036.1:n.1787C>G (ADA)
ENST00000696037.1:n.2755+8C>G (ADA)
ENST00000696038.1:c.*843C>G (ADA)	ENSP00000512344.1:n.*843C>G
ENST00000696039.1:n.1442+8C>G (ADA)
ENST00000696058.1:c.1075+8C>G (ADA)	ENSP00000512361.1:n.1075+8C>G
ENST00000696059.1:c.*1023+8C>G (ADA)	ENSP00000512362.1:n.*1023+8C>G
ENST00000696060.1:c.1147+8C>G (ADA)	ENSP00000512363.1:n.1147+8C>G
ENST00000696061.1:c.1075+8C>G (ADA)	ENSP00000512364.1:n.1075+8C>G
ENST00000696062.1:c.1141+8C>G (ADA)	ENSP00000512365.1:n.1141+8C>G
ENST00000696063.1:c.1153+8C>G (ADA)	ENSP00000512366.1:n.1153+8C>G
ENST00000696064.1:c.925+8C>G (ADA)	ENSP00000512367.1:n.925+8C>G
ENST00000696065.1:c.400+8C>G (ADA)	ENSP00000512368.1:n.400+8C>G
ENST00000696072.1:n.441C>G (ADA)
ENST00000696073.1:n.1389+8C>G (ADA)
ENST00000696074.1:n.629+8C>G (ADA)
ENST00000696075.1:c.*1048+8C>G (ADA)	ENSP00000512374.1:n.*1048+8C>G
ENST00000696076.1:c.1155C>G (ADA)	ENSP00000512375.1:p.Phe385Leu
ENST00000696077.1:c.1072+8C>G (ADA)	ENSP00000512376.1:n.1072+8C>G
ENST00000696078.1:c.1075+8C>G (ADA)	ENSP00000512377.1:n.1075+8C>G
ENST00000696079.1:c.1075+8C>G (ADA)	ENSP00000512378.1:n.1075+8C>G
ENST00000696080.1:c.1078+8C>G (ADA)	ENSP00000512379.1:n.1078+8C>G
ENST00000696081.1:n.1205C>G (ADA)
ENST00000696082.1:c.1153+8C>G (ADA)	ENSP00000512380.1:n.1153+8C>G
ENST00000696083.1:n.2035+8C>G (ADA)
ENST00000696084.1:n.1263C>G (ADA)
ENST00000696104.1:c.*147+8C>G (ADA)	ENSP00000512399.1:n.*147+8C>G
ENST00000372874.9:c.1078+8C>G (ADA) MANE Select	ENSP00000361965.4:n.1078+8C>G
ENST00000372874.8:c.1078+8C>G (ADA)	ENSP00000361965.4:n.1078+8C>G
ENST00000372887.5:c.152-3642G>C (PKIG)	ENSP00000361978.1:n.152-3642G>C
ENST00000464097.5:n.1444+8C>G (ADA)
ENST00000492931.5:n.1238+8C>G (ADA)
ENST00000536532.5:c.*221+8C>G (ADA)	ENSP00000440946.1:n.*221+8C>G
ENST00000537820.1:c.1006+8C>G (ADA)	ENSP00000441818.1:n.1006+8C>G
ENST00000539235.5:c.*462+8C>G (ADA)	ENSP00000446464.1:n.*462+8C>G
NM_000022.2:c.1078+8C>G , LRG_16t1:c.1078+8C>G (ADA)	NP_000013.2:n.1078+8C>G
XM_005260236.2:c.1006+8C>G (ADA)	XP_005260293.1:n.1006+8C>G
XM_011528478.1:c.673+8C>G (ADA)	XP_011526780.1:n.673+8C>G
XM_011528479.1:c.673+8C>G (ADA)	XP_011526781.1:n.673+8C>G
XR_244129.1:n.1067+8C>G (ADA)
NM_000022.3:c.1078+8C>G (ADA)	NP_000013.2:n.1078+8C>G
NM_001322050.1:c.673+8C>G (ADA)	NP_001308979.1:n.673+8C>G
NM_001322051.1:c.1006+8C>G (ADA)	NP_001308980.1:n.1006+8C>G
NR_136160.1:n.1164+8C>G (ADA)
NM_000022.4:c.1078+8C>G (ADA) MANE Select	NP_000013.2:n.1078+8C>G
NM_001322050.2:c.673+8C>G (ADA)	NP_001308979.1:n.673+8C>G
NM_001322051.2:c.1006+8C>G (ADA)	NP_001308980.1:n.1006+8C>G
NR_136160.2:n.1105+8C>G (ADA)