Canonical Allele Identifier: CA2365857639
Gene: ADA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44626616_44626621delinsGGGGTT , CM000682.2:g.44626616_44626621delinsGGGGTT GRCh38
NC_000020.10:g.43255257_43255262delinsGGGGTT , CM000682.1:g.43255257_43255262delinsGGGGTT GRCh37
NC_000020.9:g.42688671_42688676delinsGGGGTT NCBI36
NG_007385.1:g.30115_30120delinsAACCCC , LRG_16:g.30115_30120delinsAACCCC

Transcript Alleles

HGVS Amino-acid change
ENST00000492931.6:n.310-22_310-17delinsAACCCC
ENST00000536076.2:c.66-22_66-17delinsAACCCC ENSP00000512234.1:n.66-22_66-17delinsAACC...
ENST00000536532.6:c.219-22_219-17delinsAACCCC ENSP00000440946.1:n.219-22_219-17delinsAA...
ENST00000537820.2:c.219-22_219-17delinsAACCCC ENSP00000441818.1:n.219-22_219-17delinsAA...
ENST00000539235.6:c.218+2426_218+2431delinsAACCCC ENSP00000446464.1:n.218+2426_218+2431deli...
ENST00000695889.1:c.218+2426_218+2431delinsAACCCC ENSP00000512240.1:n.218+2426_218+2431deli...
ENST00000695890.1:n.2000_2005delinsAACCCC
ENST00000695891.1:c.218+2426_218+2431delinsAACCCC ENSP00000512241.1:n.218+2426_218+2431deli...
ENST00000695927.1:c.297-22_297-17delinsAACCCC ENSP00000512270.1:n.297-22_297-17delinsAA...
ENST00000695949.1:c.216-22_216-17delinsAACCCC ENSP00000512281.1:n.216-22_216-17delinsAA...
ENST00000695957.1:c.219-22_219-17delinsAACCCC ENSP00000512286.1:n.219-22_219-17delinsAA...
ENST00000695991.1:c.216+2428_216+2433delinsAACCCC ENSP00000512314.1:n.216+2428_216+2433deli...
ENST00000695992.1:c.219-22_219-17delinsAACCCC ENSP00000512315.1:n.219-22_219-17delinsAA...
ENST00000695993.1:c.219-22_219-17delinsAACCCC ENSP00000512316.1:n.219-22_219-17delinsAA...
ENST00000695994.1:c.219-22_219-17delinsAACCCC ENSP00000512317.1:n.219-22_219-17delinsAA...
ENST00000695995.1:c.216+2428_216+2433delinsAACCCC ENSP00000512318.1:n.216+2428_216+2433deli...
ENST00000695996.1:n.290-22_290-17delinsAACCCC
ENST00000695997.1:n.290-22_290-17delinsAACCCC
ENST00000696003.1:n.311-22_311-17delinsAACCCC
ENST00000696004.1:n.311-22_311-17delinsAACCCC
ENST00000696006.1:c.219-22_219-17delinsAACCCC ENSP00000512325.1:n.219-22_219-17delinsAA...
ENST00000696007.1:c.186-22_186-17delinsAACCCC ENSP00000512326.1:n.186-22_186-17delinsAA...
ENST00000696009.1:n.330-22_330-17delinsAACCCC
ENST00000696017.1:c.216-22_216-17delinsAACCCC ENSP00000512333.1:n.216-22_216-17delinsAA...
ENST00000696034.1:c.219-22_219-17delinsAACCCC ENSP00000512343.1:n.219-22_219-17delinsAA...
ENST00000696035.1:n.307_312delinsAACCCC
ENST00000696036.1:n.887_892delinsAACCCC
ENST00000696037.1:n.1874_1879delinsAACCCC
ENST00000696038.1:c.217-22_217-17delinsAACCCC ENSP00000512344.1:n.217-22_217-17delinsAA...
ENST00000696039.1:n.507-22_507-17delinsAACCCC
ENST00000696058.1:c.219-22_219-17delinsAACCCC ENSP00000512361.1:n.219-22_219-17delinsAA...
ENST00000696059.1:c.*164-22_*164-17delinsAACCCC ENSP00000512362.1:n.*164-22_*164-17delins...
ENST00000696060.1:c.219-22_219-17delinsAACCCC ENSP00000512363.1:n.219-22_219-17delinsAA...
ENST00000696061.1:c.216-22_216-17delinsAACCCC ENSP00000512364.1:n.216-22_216-17delinsAA...
ENST00000696062.1:c.282-22_282-17delinsAACCCC ENSP00000512365.1:n.282-22_282-17delinsAA...
ENST00000696063.1:c.294-22_294-17delinsAACCCC ENSP00000512366.1:n.294-22_294-17delinsAA...
ENST00000696064.1:c.66-22_66-17delinsAACCCC ENSP00000512367.1:n.66-22_66-17delinsAACC...
ENST00000696065.1:c.65+2426_65+2431delinsAACCCC ENSP00000512368.1:n.65+2426_65+2431delins...
ENST00000696075.1:c.*189-22_*189-17delinsAACCCC ENSP00000512374.1:n.*189-22_*189-17delins...
ENST00000696076.1:c.219-22_219-17delinsAACCCC ENSP00000512375.1:n.219-22_219-17delinsAA...
ENST00000696077.1:c.216-22_216-17delinsAACCCC ENSP00000512376.1:n.216-22_216-17delinsAA...
ENST00000696078.1:c.219-22_219-17delinsAACCCC ENSP00000512377.1:n.219-22_219-17delinsAA...
ENST00000696079.1:c.219-22_219-17delinsAACCCC ENSP00000512378.1:n.219-22_219-17delinsAA...
ENST00000696080.1:c.219-22_219-17delinsAACCCC ENSP00000512379.1:n.219-22_219-17delinsAA...
ENST00000696082.1:c.297-22_297-17delinsAACCCC ENSP00000512380.1:n.297-22_297-17delinsAA...
ENST00000696084.1:n.320-22_320-17delinsAACCCC
ENST00000696104.1:c.219-22_219-17delinsAACCCC ENSP00000512399.1:n.219-22_219-17delinsAA...
ENST00000696105.1:c.219-22_219-17delinsAACCCC ENSP00000512400.1:n.219-22_219-17delinsAA...
ENST00000372874.9:c.219-22_219-17delinsAACCCC MANE Select ENSP00000361965.4:n.219-22_219-17delinsAA...
ENST00000372874.8:c.219-22_219-17delinsAACCCC ENSP00000361965.4:n.219-22_219-17delinsAA...
ENST00000492931.5:n.303-22_303-17delinsAACCCC
ENST00000536076.1:n.399-22_399-17delinsAACCCC
ENST00000536532.5:c.219-22_219-17delinsAACCCC ENSP00000440946.1:n.219-22_219-17delinsAA...
ENST00000537820.1:c.219-22_219-17delinsAACCCC ENSP00000441818.1:n.219-22_219-17delinsAA...
ENST00000539235.5:c.218+2426_218+2431delinsAACCCC ENSP00000446464.1:n.218+2426_218+2431deli...
ENST00000545776.5:n.273-22_273-17delinsAACCCC
NM_000022.2:c.219-22_219-17delinsAACCCC , LRG_16t1:c.219-22_219-17delinsAACCCC NP_000013.2:n.219-22_219-17delinsAACCCC
XM_005260236.2:c.219-22_219-17delinsAACCCC XP_005260293.1:n.219-22_219-17delinsAACCC...
XM_011528478.1:c.-71-22_-71-17delinsAACCCC XP_011526780.1:n.-71-22_-71-17delinsAACCC...
XM_011528479.1:c.-71-22_-71-17delinsAACCCC XP_011526781.1:n.-71-22_-71-17delinsAACCC...
XR_244129.1:n.273-22_273-17delinsAACCCC
NM_000022.3:c.219-22_219-17delinsAACCCC NP_000013.2:n.219-22_219-17delinsAACCCC
NM_001322050.1:c.-71-22_-71-17delinsAACCCC NP_001308979.1:n.-71-22_-71-17delinsAACCC...
NM_001322051.1:c.219-22_219-17delinsAACCCC NP_001308980.1:n.219-22_219-17delinsAACCC...
NR_136160.1:n.370-22_370-17delinsAACCCC
NM_000022.4:c.219-22_219-17delinsAACCCC MANE Select NP_000013.2:n.219-22_219-17delinsAACCCC
NM_001322050.2:c.-71-22_-71-17delinsAACCCC NP_001308979.1:n.-71-22_-71-17delinsAACCC...
NM_001322051.2:c.219-22_219-17delinsAACCCC NP_001308980.1:n.219-22_219-17delinsAACCC...
NR_136160.2:n.311-22_311-17delinsAACCCC