Canonical Allele Identifier: CA2365856524

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44624184_44624187delinsCCTT , CM000682.2:g.44624184_44624187delinsCCTT GRCh38
NC_000020.10:g.43252825_43252828delinsCCTT , CM000682.1:g.43252825_43252828delinsCCTT GRCh37
NC_000020.9:g.42686239_42686242delinsCCTT NCBI36
NG_007385.1:g.32549_32552delinsAAGG , LRG_16:g.32549_32552delinsAAGG

Transcript Alleles

HGVS Amino-acid change
ENST00000492931.6:n.697+15_697+18delinsAAGG (ADA)
ENST00000536076.2:c.453+15_453+18delinsAAGG (ADA) ENSP00000512234.1:n.453+15_453+18delinsAA...
ENST00000536532.6:c.606+15_606+18delinsAAGG (ADA) ENSP00000440946.1:n.606+15_606+18delinsAA...
ENST00000537820.2:c.606+15_606+18delinsAAGG (ADA) ENSP00000441818.1:n.606+15_606+18delinsAA...
ENST00000539235.6:c.219-1109_219-1106delinsAAGG (ADA) ENSP00000446464.1:n.219-1109_219-1106deli...
ENST00000695889.1:c.219-1257_219-1254delinsAAGG (ADA) ENSP00000512240.1:n.219-1257_219-1254deli...
ENST00000695890.1:n.2409+15_2409+18delinsAAGG (ADA)
ENST00000695891.1:c.219-1257_219-1254delinsAAGG (ADA) ENSP00000512241.1:n.219-1257_219-1254deli...
ENST00000695927.1:c.684+15_684+18delinsAAGG (ADA) ENSP00000512270.1:n.684+15_684+18delinsAA...
ENST00000695949.1:c.603+15_603+18delinsAAGG (ADA) ENSP00000512281.1:n.603+15_603+18delinsAA...
ENST00000695957.1:c.*97+15_*97+18delinsAAGG (ADA) ENSP00000512286.1:n.*97+15_*97+18delinsAA...
ENST00000695991.1:c.217-1257_217-1254delinsAAGG (ADA) ENSP00000512314.1:n.217-1257_217-1254deli...
ENST00000695992.1:c.606+15_606+18delinsAAGG (ADA) ENSP00000512315.1:n.606+15_606+18delinsAA...
ENST00000695993.1:c.606+15_606+18delinsAAGG (ADA) ENSP00000512316.1:n.606+15_606+18delinsAA...
ENST00000695994.1:c.606+15_606+18delinsAAGG (ADA) ENSP00000512317.1:n.606+15_606+18delinsAA...
ENST00000695995.1:c.217-1109_217-1106delinsAAGG (ADA) ENSP00000512318.1:n.217-1109_217-1106deli...
ENST00000695996.1:n.677+15_677+18delinsAAGG (ADA)
ENST00000695997.1:n.576_579delinsAAGG (ADA)
ENST00000696003.1:n.698+15_698+18delinsAAGG (ADA)
ENST00000696004.1:n.698+15_698+18delinsAAGG (ADA)
ENST00000696005.1:c.128+15_128+18delinsAAGG (ADA)
ENST00000696006.1:c.606+15_606+18delinsAAGG (ADA) ENSP00000512325.1:n.606+15_606+18delinsAA...
ENST00000696007.1:c.457+15_457+18delinsAAGG (ADA) ENSP00000512326.1:n.457+15_457+18delinsAA...
ENST00000696008.1:n.1776_1779delinsAAGG (ADA)
ENST00000696009.1:n.1971_1974delinsAAGG (ADA)
ENST00000696017.1:c.603+15_603+18delinsAAGG (ADA) ENSP00000512333.1:n.603+15_603+18delinsAA...
ENST00000696034.1:c.606+15_606+18delinsAAGG (ADA) ENSP00000512343.1:n.606+15_606+18delinsAA...
ENST00000696035.1:n.716+15_716+18delinsAAGG (ADA)
ENST00000696036.1:n.1296+15_1296+18delinsAAGG (ADA)
ENST00000696037.1:n.2283+15_2283+18delinsAAGG (ADA)
ENST00000696038.1:c.*352+15_*352+18delinsAAGG (ADA) ENSP00000512344.1:n.*352+15_*352+18delins...
ENST00000696039.1:n.894+15_894+18delinsAAGG (ADA)
ENST00000696058.1:c.606+15_606+18delinsAAGG (ADA) ENSP00000512361.1:n.606+15_606+18delinsAA...
ENST00000696059.1:c.*551+15_*551+18delinsAAGG (ADA) ENSP00000512362.1:n.*551+15_*551+18delins...
ENST00000696060.1:c.606+15_606+18delinsAAGG (ADA) ENSP00000512363.1:n.606+15_606+18delinsAA...
ENST00000696061.1:c.603+15_603+18delinsAAGG (ADA) ENSP00000512364.1:n.603+15_603+18delinsAA...
ENST00000696062.1:c.669+15_669+18delinsAAGG (ADA) ENSP00000512365.1:n.669+15_669+18delinsAA...
ENST00000696063.1:c.681+15_681+18delinsAAGG (ADA) ENSP00000512366.1:n.681+15_681+18delinsAA...
ENST00000696064.1:c.453+15_453+18delinsAAGG (ADA) ENSP00000512367.1:n.453+15_453+18delinsAA...
ENST00000696065.1:c.66-1257_66-1254delinsAAGG (ADA) ENSP00000512368.1:n.66-1257_66-1254delins...
ENST00000696074.1:n.222+15_222+18delinsAAGG (ADA)
ENST00000696075.1:c.*576+15_*576+18delinsAAGG (ADA) ENSP00000512374.1:n.*576+15_*576+18delins...
ENST00000696076.1:c.606+15_606+18delinsAAGG (ADA) ENSP00000512375.1:n.606+15_606+18delinsAA...
ENST00000696077.1:c.603+15_603+18delinsAAGG (ADA) ENSP00000512376.1:n.603+15_603+18delinsAA...
ENST00000696078.1:c.606+15_606+18delinsAAGG (ADA) ENSP00000512377.1:n.606+15_606+18delinsAA...
ENST00000696079.1:c.606+15_606+18delinsAAGG (ADA) ENSP00000512378.1:n.606+15_606+18delinsAA...
ENST00000696080.1:c.606+15_606+18delinsAAGG (ADA) ENSP00000512379.1:n.606+15_606+18delinsAA...
ENST00000696081.1:n.725+15_725+18delinsAAGG (ADA)
ENST00000696082.1:c.684+15_684+18delinsAAGG (ADA) ENSP00000512380.1:n.684+15_684+18delinsAA...
ENST00000696083.1:n.1487+15_1487+18delinsAAGG (ADA)
ENST00000696084.1:n.707+15_707+18delinsAAGG (ADA)
ENST00000696104.1:c.363-1257_363-1254delinsAAGG (ADA) ENSP00000512399.1:n.363-1257_363-1254deli...
ENST00000696105.1:c.*147+15_*147+18delinsAAGG (ADA) ENSP00000512400.1:n.*147+15_*147+18delins...
ENST00000372874.9:c.606+15_606+18delinsAAGG (ADA) MANE Select ENSP00000361965.4:n.606+15_606+18delinsAA...
ENST00000372874.8:c.606+15_606+18delinsAAGG (ADA) ENSP00000361965.4:n.606+15_606+18delinsAA...
ENST00000372887.5:c.*208_*211delinsCCTT (PKIG) ENSP00000361978.1:n.*208_*211delinsCCTT
ENST00000464097.5:n.280+15_280+18delinsAAGG (ADA)
ENST00000492931.5:n.690+15_690+18delinsAAGG (ADA)
ENST00000536532.5:c.606+15_606+18delinsAAGG (ADA) ENSP00000440946.1:n.606+15_606+18delinsAA...
ENST00000537820.1:c.606+15_606+18delinsAAGG (ADA) ENSP00000441818.1:n.606+15_606+18delinsAA...
ENST00000539235.5:c.219-1109_219-1106delinsAAGG (ADA) ENSP00000446464.1:n.219-1109_219-1106deli...
NM_000022.2:c.606+15_606+18delinsAAGG , LRG_16t1:c.606+15_606+18delinsAAGG (ADA) NP_000013.2:n.606+15_606+18delinsAAGG
XM_005260236.2:c.606+15_606+18delinsAAGG (ADA) XP_005260293.1:n.606+15_606+18delinsAAGG
XM_011528478.1:c.201+15_201+18delinsAAGG (ADA) XP_011526780.1:n.201+15_201+18delinsAAGG
XM_011528479.1:c.201+15_201+18delinsAAGG (ADA) XP_011526781.1:n.201+15_201+18delinsAAGG
XR_244129.1:n.660+15_660+18delinsAAGG (ADA)
NM_000022.3:c.606+15_606+18delinsAAGG (ADA) NP_000013.2:n.606+15_606+18delinsAAGG
NM_001322050.1:c.201+15_201+18delinsAAGG (ADA) NP_001308979.1:n.201+15_201+18delinsAAGG
NM_001322051.1:c.606+15_606+18delinsAAGG (ADA) NP_001308980.1:n.606+15_606+18delinsAAGG
NR_136160.1:n.757+15_757+18delinsAAGG (ADA)
NM_000022.4:c.606+15_606+18delinsAAGG (ADA) MANE Select NP_000013.2:n.606+15_606+18delinsAAGG
NM_001322050.2:c.201+15_201+18delinsAAGG (ADA) NP_001308979.1:n.201+15_201+18delinsAAGG
NM_001322051.2:c.606+15_606+18delinsAAGG (ADA) NP_001308980.1:n.606+15_606+18delinsAAGG
NR_136160.2:n.698+15_698+18delinsAAGG (ADA)