Canonical Allele Identifier: CA2365857657

Gene: ADA

Linked Data

• dbSNP Id: rs2065385634

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44626653_44626661del , CM000682.2:g.44626653_44626661del	GRCh38
NC_000020.10:g.43255294_43255302del , CM000682.1:g.43255294_43255302del	GRCh37
NC_000020.9:g.42688708_42688716del	NCBI36
NG_007385.1:g.30080_30088del , LRG_16:g.30080_30088del

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.310-57_310-49del
ENST00000536076.2:c.66-57_66-49del	ENSP00000512234.1:n.66-57_66-49del
ENST00000536532.6:c.219-57_219-49del	ENSP00000440946.1:n.219-57_219-49del
ENST00000537820.2:c.219-57_219-49del	ENSP00000441818.1:n.219-57_219-49del
ENST00000539235.6:c.218+2391_218+2399del	ENSP00000446464.1:n.218+2391_218+2399del
ENST00000695889.1:c.218+2391_218+2399del	ENSP00000512240.1:n.218+2391_218+2399del
ENST00000695890.1:n.1965_1973del
ENST00000695891.1:c.218+2391_218+2399del	ENSP00000512241.1:n.218+2391_218+2399del
ENST00000695927.1:c.297-57_297-49del	ENSP00000512270.1:n.297-57_297-49del
ENST00000695949.1:c.216-57_216-49del	ENSP00000512281.1:n.216-57_216-49del
ENST00000695957.1:c.219-57_219-49del	ENSP00000512286.1:n.219-57_219-49del
ENST00000695991.1:c.216+2393_216+2401del	ENSP00000512314.1:n.216+2393_216+2401del
ENST00000695992.1:c.219-57_219-49del	ENSP00000512315.1:n.219-57_219-49del
ENST00000695993.1:c.219-57_219-49del	ENSP00000512316.1:n.219-57_219-49del
ENST00000695994.1:c.219-57_219-49del	ENSP00000512317.1:n.219-57_219-49del
ENST00000695995.1:c.216+2393_216+2401del	ENSP00000512318.1:n.216+2393_216+2401del
ENST00000695996.1:n.290-57_290-49del
ENST00000695997.1:n.290-57_290-49del
ENST00000696003.1:n.311-57_311-49del
ENST00000696004.1:n.311-57_311-49del
ENST00000696006.1:c.219-57_219-49del	ENSP00000512325.1:n.219-57_219-49del
ENST00000696007.1:c.186-57_186-49del	ENSP00000512326.1:n.186-57_186-49del
ENST00000696009.1:n.330-57_330-49del
ENST00000696017.1:c.216-57_216-49del	ENSP00000512333.1:n.216-57_216-49del
ENST00000696034.1:c.219-57_219-49del	ENSP00000512343.1:n.219-57_219-49del
ENST00000696035.1:n.272_280del
ENST00000696036.1:n.852_860del
ENST00000696037.1:n.1839_1847del
ENST00000696038.1:c.217-57_217-49del	ENSP00000512344.1:n.217-57_217-49del
ENST00000696039.1:n.507-57_507-49del
ENST00000696058.1:c.219-57_219-49del	ENSP00000512361.1:n.219-57_219-49del
ENST00000696059.1:c.*164-57_*164-49del	ENSP00000512362.1:n.*164-57_*164-49del
ENST00000696060.1:c.219-57_219-49del	ENSP00000512363.1:n.219-57_219-49del
ENST00000696061.1:c.216-57_216-49del	ENSP00000512364.1:n.216-57_216-49del
ENST00000696062.1:c.282-57_282-49del	ENSP00000512365.1:n.282-57_282-49del
ENST00000696063.1:c.294-57_294-49del	ENSP00000512366.1:n.294-57_294-49del
ENST00000696064.1:c.66-57_66-49del	ENSP00000512367.1:n.66-57_66-49del
ENST00000696065.1:c.65+2391_65+2399del	ENSP00000512368.1:n.65+2391_65+2399del
ENST00000696075.1:c.*189-57_*189-49del	ENSP00000512374.1:n.*189-57_*189-49del
ENST00000696076.1:c.219-57_219-49del	ENSP00000512375.1:n.219-57_219-49del
ENST00000696077.1:c.216-57_216-49del	ENSP00000512376.1:n.216-57_216-49del
ENST00000696078.1:c.219-57_219-49del	ENSP00000512377.1:n.219-57_219-49del
ENST00000696079.1:c.219-57_219-49del	ENSP00000512378.1:n.219-57_219-49del
ENST00000696080.1:c.219-57_219-49del	ENSP00000512379.1:n.219-57_219-49del
ENST00000696082.1:c.297-57_297-49del	ENSP00000512380.1:n.297-57_297-49del
ENST00000696084.1:n.320-57_320-49del
ENST00000696104.1:c.219-57_219-49del	ENSP00000512399.1:n.219-57_219-49del
ENST00000696105.1:c.219-57_219-49del	ENSP00000512400.1:n.219-57_219-49del
ENST00000372874.9:c.219-57_219-49del MANE Select	ENSP00000361965.4:n.219-57_219-49del
ENST00000372874.8:c.219-57_219-49del	ENSP00000361965.4:n.219-57_219-49del
ENST00000492931.5:n.303-57_303-49del
ENST00000536076.1:n.399-57_399-49del
ENST00000536532.5:c.219-57_219-49del	ENSP00000440946.1:n.219-57_219-49del
ENST00000537820.1:c.219-57_219-49del	ENSP00000441818.1:n.219-57_219-49del
ENST00000539235.5:c.218+2391_218+2399del	ENSP00000446464.1:n.218+2391_218+2399del
ENST00000545776.5:n.273-57_273-49del
NM_000022.2:c.219-57_219-49del , LRG_16t1:c.219-57_219-49del	NP_000013.2:n.219-57_219-49del
XM_005260236.2:c.219-57_219-49del	XP_005260293.1:n.219-57_219-49del
XM_011528478.1:c.-71-57_-71-49del	XP_011526780.1:n.-71-57_-71-49del
XM_011528479.1:c.-71-57_-71-49del	XP_011526781.1:n.-71-57_-71-49del
XR_244129.1:n.273-57_273-49del
NM_000022.3:c.219-57_219-49del	NP_000013.2:n.219-57_219-49del
NM_001322050.1:c.-71-57_-71-49del	NP_001308979.1:n.-71-57_-71-49del
NM_001322051.1:c.219-57_219-49del	NP_001308980.1:n.219-57_219-49del
NR_136160.1:n.370-57_370-49del
NM_000022.4:c.219-57_219-49del MANE Select	NP_000013.2:n.219-57_219-49del
NM_001322050.2:c.-71-57_-71-49del	NP_001308979.1:n.-71-57_-71-49del
NM_001322051.2:c.219-57_219-49del	NP_001308980.1:n.219-57_219-49del
NR_136160.2:n.311-57_311-49del