Canonical Allele Identifier: CA2499225758

Gene: ADA PKIG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620380_44620381del , CM000682.2:g.44620380_44620381del	GRCh38
NC_000020.10:g.43249021_43249022del , CM000682.1:g.43249021_43249022del	GRCh37
NC_000020.9:g.42682435_42682436del	NCBI36
NG_007385.1:g.36355_36356del , LRG_16:g.36355_36356del

Transcript Alleles

HGVS	Amino-acid Change
NM_000022.4:c.996_997del (ADA) MANE Select	NP_000013.2:p.Ser333PhefsTer6
ENST00000372874.9:c.996_997del (ADA) MANE Select	ENSP00000361965.4:p.Ser333PhefsTer6
NM_000022.2:c.996_997del , LRG_16t1:c.996_997del (ADA)	NP_000013.2:p.Ser333PhefsTer6
NM_000022.3:c.996_997del (ADA)	NP_000013.2:p.Ser333PhefsTer6
NM_001322050.1:c.591_592del (ADA)	NP_001308979.1:p.Ser198PhefsTer6
NM_001322050.2:c.591_592del (ADA)	NP_001308979.1:p.Ser198PhefsTer6
NM_001322051.1:c.924_925del (ADA)	NP_001308980.1:p.Ser309PhefsTer6
NM_001322051.2:c.924_925del (ADA)	NP_001308980.1:p.Ser309PhefsTer6
NR_136160.1:n.1082_1083del (ADA)
NR_136160.2:n.1023_1024del (ADA)
ENST00000372874.8:c.996_997del (ADA)	ENSP00000361965.4:p.Ser333PhefsTer6
ENST00000372887.5:c.152-3553_152-3552del (PKIG)	ENSP00000361978.1:n.152-3553_152-3552del
ENST00000464097.5:n.1362_1363del (ADA)
ENST00000492931.5:n.1156_1157del (ADA)
ENST00000492931.6:n.1163_1164del (ADA)
ENST00000536076.2:c.843_844del (ADA)	ENSP00000512234.1:p.Ser282PhefsTer6
ENST00000536532.5:c.*139_*140del (ADA)	ENSP00000440946.1:n.*139_*140del
ENST00000536532.6:c.*139_*140del (ADA)	ENSP00000440946.1:n.*139_*140del
ENST00000537820.1:c.924_925del (ADA)	ENSP00000441818.1:p.Ser309PhefsTer6
ENST00000537820.2:c.924_925del (ADA)	ENSP00000441818.1:p.Ser309PhefsTer6
ENST00000539235.5:c.*380_*381del (ADA)	ENSP00000446464.1:n.*380_*381del
ENST00000539235.6:c.*380_*381del (ADA)	ENSP00000446464.1:n.*380_*381del
ENST00000695889.1:c.471_472del (ADA)	ENSP00000512240.1:p.Ser158PhefsTer6
ENST00000695890.1:n.5107_5108del (ADA)
ENST00000695891.1:c.536_537del (ADA)	ENSP00000512241.1:n.536_537del
ENST00000695927.1:c.1074_1075del (ADA)	ENSP00000512270.1:p.Ser359PhefsTer6
ENST00000695949.1:c.921_922del (ADA)	ENSP00000512281.1:p.Ser308PhefsTer6
ENST00000695956.1:c.151_152del (ADA)
ENST00000695957.1:c.*487_*488del (ADA)	ENSP00000512286.1:n.*487_*488del
ENST00000695991.1:c.534_535del (ADA)	ENSP00000512314.1:p.Ser179PhefsTer6
ENST00000695992.1:c.*139_*140del (ADA)	ENSP00000512315.1:n.*139_*140del
ENST00000695993.1:c.996_997del (ADA)	ENSP00000512316.1:p.Ser333PhefsTer6
ENST00000695994.1:c.*139_*140del (ADA)	ENSP00000512317.1:n.*139_*140del
ENST00000695995.1:c.606_607del (ADA)	ENSP00000512318.1:p.Ser203PhefsTer6
ENST00000695996.1:n.1078_1079del (ADA)
ENST00000696003.1:n.2780_2781del (ADA)
ENST00000696004.1:n.1780_1781del (ADA)
ENST00000696005.1:c.446_447del (ADA)
ENST00000696006.1:c.*139_*140del (ADA)	ENSP00000512325.1:n.*139_*140del
ENST00000696007.1:c.923_924del (ADA)	ENSP00000512326.1:n.923_924del
ENST00000696008.1:n.3350_3351del (ADA)
ENST00000696017.1:c.993_994del (ADA)	ENSP00000512333.1:p.Ser332PhefsTer6
ENST00000696034.1:c.*139_*140del (ADA)	ENSP00000512343.1:n.*139_*140del
ENST00000696035.1:n.1182_1183del (ADA)
ENST00000696036.1:n.1697_1698del (ADA)
ENST00000696037.1:n.2673_2674del (ADA)
ENST00000696038.1:c.*753_*754del (ADA)	ENSP00000512344.1:n.*753_*754del
ENST00000696039.1:n.1360_1361del (ADA)
ENST00000696058.1:c.993_994del (ADA)	ENSP00000512361.1:p.Ser332PhefsTer6
ENST00000696059.1:c.*941_*942del (ADA)	ENSP00000512362.1:n.*941_*942del
ENST00000696060.1:c.1065_1066del (ADA)	ENSP00000512363.1:p.Ser356PhefsTer6
ENST00000696061.1:c.993_994del (ADA)	ENSP00000512364.1:p.Ser332PhefsTer6
ENST00000696062.1:c.1059_1060del (ADA)	ENSP00000512365.1:p.Ser354PhefsTer6
ENST00000696063.1:c.1071_1072del (ADA)	ENSP00000512366.1:p.Ser358PhefsTer6
ENST00000696064.1:c.843_844del (ADA)	ENSP00000512367.1:p.Ser282PhefsTer6
ENST00000696065.1:c.318_319del (ADA)	ENSP00000512368.1:p.Ser107PhefsTer6
ENST00000696072.1:n.351_352del (ADA)
ENST00000696073.1:n.1307_1308del (ADA)
ENST00000696074.1:n.547_548del (ADA)
ENST00000696075.1:c.*966_*967del (ADA)	ENSP00000512374.1:n.*966_*967del
ENST00000696076.1:c.1065_1066del (ADA)	ENSP00000512375.1:p.Ser356PhefsTer6
ENST00000696077.1:c.990_991del (ADA)	ENSP00000512376.1:p.Ser331PhefsTer6
ENST00000696078.1:c.993_994del (ADA)	ENSP00000512377.1:p.Ser332PhefsTer6
ENST00000696079.1:c.993_994del (ADA)	ENSP00000512378.1:p.Ser332PhefsTer6
ENST00000696080.1:c.996_997del (ADA)	ENSP00000512379.1:p.Ser333PhefsTer6
ENST00000696081.1:n.1115_1116del (ADA)
ENST00000696082.1:c.1071_1072del (ADA)	ENSP00000512380.1:p.Ser358PhefsTer6
ENST00000696083.1:n.1953_1954del (ADA)
ENST00000696084.1:n.1173_1174del (ADA)
ENST00000696104.1:c.*65_*66del (ADA)	ENSP00000512399.1:n.*65_*66del
XM_005260236.2:c.924_925del (ADA)	XP_005260293.1:p.Ser309PhefsTer6
XM_011528478.1:c.591_592del (ADA)	XP_011526780.1:p.Ser198PhefsTer6
XM_011528479.1:c.591_592del (ADA)	XP_011526781.1:p.Ser198PhefsTer6
XR_244129.1:n.985_986del (ADA)