Canonical Allele Identifier: CA274927

Linked Data

ClinVar Variation Id: 193544
dbSNP Id: rs771266745

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44621034_44621038del , CM000682.2:g.44621034_44621038del GRCh38
NC_000020.10:g.43249675_43249679del , CM000682.1:g.43249675_43249679del GRCh37
NC_000020.9:g.42683089_42683093del NCBI36
NG_007385.1:g.35699_35703del , LRG_16:g.35699_35703del

Transcript Alleles

HGVS Amino-acid change
ENST00000492931.6:n.1123_1127del (ADA)
ENST00000536076.2:c.803_807del (ADA) ENSP00000512234.1:p.Glu268GlyfsTer3
ENST00000536532.6:c.*99_*103del (ADA) ENSP00000440946.1:n.*99_*103del
ENST00000537820.2:c.884_888del (ADA) ENSP00000441818.1:p.Glu295GlyfsTer3
ENST00000539235.6:c.*340_*344del (ADA) ENSP00000446464.1:n.*340_*344del
ENST00000695889.1:c.431_435del (ADA) ENSP00000512240.1:p.Glu144GlyfsTer3
ENST00000695890.1:n.4451_4455del (ADA)
ENST00000695891.1:c.496_500del (ADA) ENSP00000512241.1:n.496_500del
ENST00000695927.1:c.1034_1038del (ADA) ENSP00000512270.1:p.Glu345GlyfsTer3
ENST00000695949.1:c.881_885del (ADA) ENSP00000512281.1:p.Glu294GlyfsTer3
ENST00000695956.1:c.111_115del (ADA)
ENST00000695957.1:c.*447_*451del (ADA) ENSP00000512286.1:n.*447_*451del
ENST00000695991.1:c.494_498del (ADA) ENSP00000512314.1:p.Glu165GlyfsTer3
ENST00000695992.1:c.*99_*103del (ADA) ENSP00000512315.1:n.*99_*103del
ENST00000695993.1:c.956_960del (ADA) ENSP00000512316.1:p.Glu319GlyfsTer3
ENST00000695994.1:c.*99_*103del (ADA) ENSP00000512317.1:n.*99_*103del
ENST00000695995.1:c.566_570del (ADA) ENSP00000512318.1:p.Glu189GlyfsTer3
ENST00000695996.1:n.1038_1042del (ADA)
ENST00000696003.1:n.2740_2744del (ADA)
ENST00000696004.1:n.1124_1128del (ADA)
ENST00000696005.1:c.406_410del (ADA)
ENST00000696006.1:c.*99_*103del (ADA) ENSP00000512325.1:n.*99_*103del
ENST00000696007.1:c.883_887del (ADA) ENSP00000512326.1:n.883_887del
ENST00000696008.1:n.3310_3314del (ADA)
ENST00000696017.1:c.953_957del (ADA) ENSP00000512333.1:p.Glu318GlyfsTer3
ENST00000696034.1:c.*99_*103del (ADA) ENSP00000512343.1:n.*99_*103del
ENST00000696035.1:n.1142_1146del (ADA)
ENST00000696036.1:n.1657_1661del (ADA)
ENST00000696037.1:n.2633_2637del (ADA)
ENST00000696038.1:c.*713_*717del (ADA) ENSP00000512344.1:n.*713_*717del
ENST00000696039.1:n.1320_1324del (ADA)
ENST00000696058.1:c.953_957del (ADA) ENSP00000512361.1:p.Glu318GlyfsTer3
ENST00000696059.1:c.*901_*905del (ADA) ENSP00000512362.1:n.*901_*905del
ENST00000696060.1:c.1025_1029del (ADA) ENSP00000512363.1:p.Glu342GlyfsTer3
ENST00000696061.1:c.953_957del (ADA) ENSP00000512364.1:p.Glu318GlyfsTer3
ENST00000696062.1:c.1019_1023del (ADA) ENSP00000512365.1:p.Glu340GlyfsTer3
ENST00000696063.1:c.1031_1035del (ADA) ENSP00000512366.1:p.Glu344GlyfsTer3
ENST00000696064.1:c.803_807del (ADA) ENSP00000512367.1:p.Glu268GlyfsTer3
ENST00000696065.1:c.278_282del (ADA) ENSP00000512368.1:p.Glu93GlyfsTer3
ENST00000696072.1:n.311_315del (ADA)
ENST00000696073.1:n.1267_1271del (ADA)
ENST00000696074.1:n.507_511del (ADA)
ENST00000696075.1:c.*926_*930del (ADA) ENSP00000512374.1:n.*926_*930del
ENST00000696076.1:c.1025_1029del (ADA) ENSP00000512375.1:p.Glu342GlyfsTer3
ENST00000696077.1:c.950_954del (ADA) ENSP00000512376.1:p.Glu317GlyfsTer3
ENST00000696078.1:c.953_957del (ADA) ENSP00000512377.1:p.Glu318GlyfsTer3
ENST00000696079.1:c.953_957del (ADA) ENSP00000512378.1:p.Glu318GlyfsTer3
ENST00000696080.1:c.956_960del (ADA) ENSP00000512379.1:p.Glu319GlyfsTer3
ENST00000696081.1:n.1075_1079del (ADA)
ENST00000696082.1:c.1031_1035del (ADA) ENSP00000512380.1:p.Glu344GlyfsTer3
ENST00000696083.1:n.1913_1917del (ADA)
ENST00000696084.1:n.1133_1137del (ADA)
ENST00000696104.1:c.*25_*29del (ADA) ENSP00000512399.1:n.*25_*29del
ENST00000372874.9:c.956_960del (ADA) MANE Select ENSP00000361965.4:p.Glu319GlyfsTer3
ENST00000372874.8:c.956_960del (ADA) ENSP00000361965.4:p.Glu319GlyfsTer3
ENST00000372887.5:c.152-2899_152-2895del (PKIG) ENSP00000361978.1:n.152-2899_152-2895del
ENST00000464097.5:n.706_710del (ADA)
ENST00000492931.5:n.1116_1120del (ADA)
ENST00000536532.5:c.*99_*103del (ADA) ENSP00000440946.1:n.*99_*103del
ENST00000537820.1:c.884_888del (ADA) ENSP00000441818.1:p.Glu295GlyfsTer3
ENST00000539235.5:c.*340_*344del (ADA) ENSP00000446464.1:n.*340_*344del
NM_000022.2:c.956_960del , LRG_16t1:c.956_960del (ADA) NP_000013.2:p.Glu319GlyfsTer3
XM_005260236.2:c.884_888del (ADA) XP_005260293.1:p.Glu295GlyfsTer3
XM_011528478.1:c.551_555del (ADA) XP_011526780.1:p.Glu184GlyfsTer3
XM_011528479.1:c.551_555del (ADA) XP_011526781.1:p.Glu184GlyfsTer3
XR_244129.1:n.945_949del (ADA)
NM_000022.3:c.956_960del (ADA) NP_000013.2:p.Glu319GlyfsTer3
NM_001322050.1:c.551_555del (ADA) NP_001308979.1:p.Glu184GlyfsTer3
NM_001322051.1:c.884_888del (ADA) NP_001308980.1:p.Glu295GlyfsTer3
NR_136160.1:n.1042_1046del (ADA)
NM_000022.4:c.956_960del (ADA) MANE Select NP_000013.2:p.Glu319GlyfsTer3
NM_001322050.2:c.551_555del (ADA) NP_001308979.1:p.Glu184GlyfsTer3
NM_001322051.2:c.884_888del (ADA) NP_001308980.1:p.Glu295GlyfsTer3
NR_136160.2:n.983_987del (ADA)