Canonical Allele Identifier: CA2974347495

Gene: ADA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624289_44624291del , CM000682.2:g.44624289_44624291del	GRCh38
NC_000020.10:g.43252930_43252932del , CM000682.1:g.43252930_43252932del	GRCh37
NC_000020.9:g.42686344_42686346del	NCBI36
NG_007385.1:g.32451_32453del , LRG_16:g.32451_32453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.614_616del
ENST00000536076.2:c.370_372del	ENSP00000512234.1:p.Gln124del
ENST00000536532.6:c.523_525del	ENSP00000440946.1:p.Gln175del
ENST00000537820.2:c.523_525del	ENSP00000441818.1:p.Gln175del
ENST00000539235.6:c.219-1207_219-1205del	ENSP00000446464.1:n.219-1207_219-1205del
ENST00000695889.1:c.219-1355_219-1353del	ENSP00000512240.1:n.219-1355_219-1353del
ENST00000695890.1:n.2326_2328del
ENST00000695891.1:c.219-1355_219-1353del	ENSP00000512241.1:n.219-1355_219-1353del
ENST00000695927.1:c.601_603del	ENSP00000512270.1:p.Gln201del
ENST00000695949.1:c.520_522del	ENSP00000512281.1:p.Gln174del
ENST00000695957.1:c.*14_*16del	ENSP00000512286.1:n.*14_*16del
ENST00000695991.1:c.217-1355_217-1353del	ENSP00000512314.1:n.217-1355_217-1353del
ENST00000695992.1:c.523_525del	ENSP00000512315.1:p.Gln175del
ENST00000695993.1:c.523_525del	ENSP00000512316.1:p.Gln175del
ENST00000695994.1:c.523_525del	ENSP00000512317.1:p.Gln175del
ENST00000695995.1:c.217-1207_217-1205del	ENSP00000512318.1:n.217-1207_217-1205del
ENST00000695996.1:n.594_596del
ENST00000695997.1:n.478_480del
ENST00000696003.1:n.615_617del
ENST00000696004.1:n.615_617del
ENST00000696005.1:c.45_47del
ENST00000696006.1:c.523_525del	ENSP00000512325.1:p.Gln175del
ENST00000696007.1:c.374_376del	ENSP00000512326.1:n.374_376del
ENST00000696008.1:n.1678_1680del
ENST00000696009.1:n.1873_1875del
ENST00000696017.1:c.520_522del	ENSP00000512333.1:p.Gln174del
ENST00000696034.1:c.523_525del	ENSP00000512343.1:p.Gln175del
ENST00000696035.1:n.633_635del
ENST00000696036.1:n.1213_1215del
ENST00000696037.1:n.2200_2202del
ENST00000696038.1:c.*269_*271del	ENSP00000512344.1:n.*269_*271del
ENST00000696039.1:n.811_813del
ENST00000696058.1:c.523_525del	ENSP00000512361.1:p.Gln175del
ENST00000696059.1:c.*468_*470del	ENSP00000512362.1:n.*468_*470del
ENST00000696060.1:c.523_525del	ENSP00000512363.1:p.Gln175del
ENST00000696061.1:c.520_522del	ENSP00000512364.1:p.Gln174del
ENST00000696062.1:c.586_588del	ENSP00000512365.1:p.Gln196del
ENST00000696063.1:c.598_600del	ENSP00000512366.1:p.Gln200del
ENST00000696064.1:c.370_372del	ENSP00000512367.1:p.Gln124del
ENST00000696065.1:c.66-1355_66-1353del	ENSP00000512368.1:n.66-1355_66-1353del
ENST00000696074.1:n.139_141del
ENST00000696075.1:c.*493_*495del	ENSP00000512374.1:n.*493_*495del
ENST00000696076.1:c.523_525del	ENSP00000512375.1:p.Gln175del
ENST00000696077.1:c.520_522del	ENSP00000512376.1:p.Gln174del
ENST00000696078.1:c.523_525del	ENSP00000512377.1:p.Gln175del
ENST00000696079.1:c.523_525del	ENSP00000512378.1:p.Gln175del
ENST00000696080.1:c.523_525del	ENSP00000512379.1:p.Gln175del
ENST00000696081.1:n.642_644del
ENST00000696082.1:c.601_603del	ENSP00000512380.1:p.Gln201del
ENST00000696083.1:n.1404_1406del
ENST00000696084.1:n.624_626del
ENST00000696104.1:c.363-1355_363-1353del	ENSP00000512399.1:n.363-1355_363-1353del
ENST00000696105.1:c.*64_*66del	ENSP00000512400.1:n.*64_*66del
ENST00000372874.9:c.523_525del MANE Select	ENSP00000361965.4:p.Gln175del
ENST00000372874.8:c.523_525del	ENSP00000361965.4:p.Gln175del
ENST00000464097.5:n.197_199del
ENST00000492931.5:n.607_609del
ENST00000536532.5:c.523_525del	ENSP00000440946.1:p.Gln175del
ENST00000537820.1:c.523_525del	ENSP00000441818.1:p.Gln175del
ENST00000539235.5:c.219-1207_219-1205del	ENSP00000446464.1:n.219-1207_219-1205del
NM_000022.2:c.523_525del , LRG_16t1:c.523_525del	NP_000013.2:p.Gln175del
XM_005260236.2:c.523_525del	XP_005260293.1:p.Gln175del
XM_011528478.1:c.118_120del	XP_011526780.1:p.Gln40del
XM_011528479.1:c.118_120del	XP_011526781.1:p.Gln40del
XR_244129.1:n.577_579del
NM_000022.3:c.523_525del	NP_000013.2:p.Gln175del
NM_001322050.1:c.118_120del	NP_001308979.1:p.Gln40del
NM_001322051.1:c.523_525del	NP_001308980.1:p.Gln175del
NR_136160.1:n.674_676del
NM_000022.4:c.523_525del MANE Select	NP_000013.2:p.Gln175del
NM_001322050.2:c.118_120del	NP_001308979.1:p.Gln40del
NM_001322051.2:c.523_525del	NP_001308980.1:p.Gln175del
NR_136160.2:n.615_617del