Canonical Allele Identifier: CA2365856051
Gene: ADA HGNC NCBI
PKIG HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44623249_44623252delinsCATT , CM000682.2:g.44623249_44623252delinsCATT GRCh38
NC_000020.10:g.43251890_43251893delinsCATT , CM000682.1:g.43251890_43251893delinsCATT GRCh37
NC_000020.9:g.42685304_42685307delinsCATT NCBI36
NG_007385.1:g.33484_33487delinsAATG , LRG_16:g.33484_33487delinsAATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.698-174_698-171delinsAATG (ADA)
ENST00000536076.2:c.454-174_454-171delinsAATG (ADA) ENSP00000512234.1:n.454-174_454-171delinsAATG
ENST00000536532.6:c.607-174_607-171delinsAATG (ADA) ENSP00000440946.1:n.607-174_607-171delinsAATG
ENST00000537820.2:c.607-322_607-319delinsAATG (ADA) ENSP00000441818.1:n.607-322_607-319delinsAATG
ENST00000539235.6:c.219-174_219-171delinsAATG (ADA) ENSP00000446464.1:n.219-174_219-171delinsAATG
ENST00000695889.1:c.219-322_219-319delinsAATG (ADA) ENSP00000512240.1:n.219-322_219-319delinsAATG
ENST00000695890.1:n.2410-174_2410-171delinsAATG (ADA)
ENST00000695891.1:c.219-322_219-319delinsAATG (ADA) ENSP00000512241.1:n.219-322_219-319delinsAATG
ENST00000695927.1:c.685-174_685-171delinsAATG (ADA) ENSP00000512270.1:n.685-174_685-171delinsAATG
ENST00000695949.1:c.604-322_604-319delinsAATG (ADA) ENSP00000512281.1:n.604-322_604-319delinsAATG
ENST00000695957.1:c.*98-174_*98-171delinsAATG (ADA) ENSP00000512286.1:n.*98-174_*98-171delinsAATG
ENST00000695991.1:c.217-322_217-319delinsAATG (ADA) ENSP00000512314.1:n.217-322_217-319delinsAATG
ENST00000695992.1:c.607-174_607-171delinsAATG (ADA) ENSP00000512315.1:n.607-174_607-171delinsAATG
ENST00000695993.1:c.607-174_607-171delinsAATG (ADA) ENSP00000512316.1:n.607-174_607-171delinsAATG
ENST00000695994.1:c.607-174_607-171delinsAATG (ADA) ENSP00000512317.1:n.607-174_607-171delinsAATG
ENST00000695995.1:c.217-174_217-171delinsAATG (ADA) ENSP00000512318.1:n.217-174_217-171delinsAATG
ENST00000695996.1:n.678-174_678-171delinsAATG (ADA)
ENST00000696003.1:n.699-174_699-171delinsAATG (ADA)
ENST00000696004.1:n.699-174_699-171delinsAATG (ADA)
ENST00000696005.1:c.129-322_129-319delinsAATG (ADA)
ENST00000696006.1:c.607-322_607-319delinsAATG (ADA) ENSP00000512325.1:n.607-322_607-319delinsAATG
ENST00000696007.1:c.458-174_458-171delinsAATG (ADA) ENSP00000512326.1:n.458-174_458-171delinsAATG
ENST00000696008.1:n.2711_2714delinsAATG (ADA)
ENST00000696017.1:c.604-174_604-171delinsAATG (ADA) ENSP00000512333.1:n.604-174_604-171delinsAATG
ENST00000696034.1:c.607-174_607-171delinsAATG (ADA) ENSP00000512343.1:n.607-174_607-171delinsAATG
ENST00000696035.1:n.717-174_717-171delinsAATG (ADA)
ENST00000696036.1:n.1297-174_1297-171delinsAATG (ADA)
ENST00000696037.1:n.2284-174_2284-171delinsAATG (ADA)
ENST00000696038.1:c.*353-174_*353-171delinsAATG (ADA) ENSP00000512344.1:n.*353-174_*353-171delinsAATG
ENST00000696039.1:n.895-174_895-171delinsAATG (ADA)
ENST00000696058.1:c.607-177_607-174delinsAATG (ADA) ENSP00000512361.1:n.607-177_607-174delinsAATG
ENST00000696059.1:c.*552-174_*552-171delinsAATG (ADA) ENSP00000512362.1:n.*552-174_*552-171delinsAATG
ENST00000696060.1:c.607-105_607-102delinsAATG (ADA) ENSP00000512363.1:n.607-105_607-102delinsAATG
ENST00000696061.1:c.604-174_604-171delinsAATG (ADA) ENSP00000512364.1:n.604-174_604-171delinsAATG
ENST00000696062.1:c.670-174_670-171delinsAATG (ADA) ENSP00000512365.1:n.670-174_670-171delinsAATG
ENST00000696063.1:c.682-174_682-171delinsAATG (ADA) ENSP00000512366.1:n.682-174_682-171delinsAATG
ENST00000696064.1:c.454-174_454-171delinsAATG (ADA) ENSP00000512367.1:n.454-174_454-171delinsAATG
ENST00000696065.1:c.66-322_66-319delinsAATG (ADA) ENSP00000512368.1:n.66-322_66-319delinsAATG
ENST00000696073.1:n.668_671delinsAATG (ADA)
ENST00000696074.1:n.223-174_223-171delinsAATG (ADA)
ENST00000696075.1:c.*577-174_*577-171delinsAATG (ADA) ENSP00000512374.1:n.*577-174_*577-171delinsAATG
ENST00000696076.1:c.607-105_607-102delinsAATG (ADA) ENSP00000512375.1:n.607-105_607-102delinsAATG
ENST00000696077.1:c.604-177_604-174delinsAATG (ADA) ENSP00000512376.1:n.604-177_604-174delinsAATG
ENST00000696078.1:c.607-177_607-174delinsAATG (ADA) ENSP00000512377.1:n.607-177_607-174delinsAATG
ENST00000696079.1:c.607-177_607-174delinsAATG (ADA) ENSP00000512378.1:n.607-177_607-174delinsAATG
ENST00000696080.1:c.607-174_607-171delinsAATG (ADA) ENSP00000512379.1:n.607-174_607-171delinsAATG
ENST00000696081.1:n.726-174_726-171delinsAATG (ADA)
ENST00000696082.1:c.685-177_685-174delinsAATG (ADA) ENSP00000512380.1:n.685-177_685-174delinsAATG
ENST00000696083.1:n.1488-174_1488-171delinsAATG (ADA)
ENST00000696084.1:n.708-174_708-171delinsAATG (ADA)
ENST00000696104.1:c.363-322_363-319delinsAATG (ADA) ENSP00000512399.1:n.363-322_363-319delinsAATG
ENST00000696105.1:c.*148-174_*148-171delinsAATG (ADA) ENSP00000512400.1:n.*148-174_*148-171delinsAATG
ENST00000372874.9:c.607-174_607-171delinsAATG (ADA) MANE Select ENSP00000361965.4:n.607-174_607-171delinsAATG
ENST00000372874.8:c.607-174_607-171delinsAATG (ADA) ENSP00000361965.4:n.607-174_607-171delinsAATG
ENST00000372887.5:c.152-684_152-681delinsCATT (PKIG) ENSP00000361978.1:n.152-684_152-681delinsCATT
ENST00000464097.5:n.281-174_281-171delinsAATG (ADA)
ENST00000492931.5:n.691-174_691-171delinsAATG (ADA)
ENST00000536532.5:c.607-174_607-171delinsAATG (ADA) ENSP00000440946.1:n.607-174_607-171delinsAATG
ENST00000537820.1:c.607-322_607-319delinsAATG (ADA) ENSP00000441818.1:n.607-322_607-319delinsAATG
ENST00000539235.5:c.219-174_219-171delinsAATG (ADA) ENSP00000446464.1:n.219-174_219-171delinsAATG
NM_000022.2:c.607-174_607-171delinsAATG , LRG_16t1:c.607-174_607-171delinsAATG (ADA) NP_000013.2:n.607-174_607-171delinsAATG
XM_005260236.2:c.607-322_607-319delinsAATG (ADA) XP_005260293.1:n.607-322_607-319delinsAATG
XM_011528478.1:c.202-174_202-171delinsAATG (ADA) XP_011526780.1:n.202-174_202-171delinsAATG
XM_011528479.1:c.202-174_202-171delinsAATG (ADA) XP_011526781.1:n.202-174_202-171delinsAATG
XR_244129.1:n.661-174_661-171delinsAATG (ADA)
NM_000022.3:c.607-174_607-171delinsAATG (ADA) NP_000013.2:n.607-174_607-171delinsAATG
NM_001322050.1:c.202-174_202-171delinsAATG (ADA) NP_001308979.1:n.202-174_202-171delinsAATG
NM_001322051.1:c.607-322_607-319delinsAATG (ADA) NP_001308980.1:n.607-322_607-319delinsAATG
NR_136160.1:n.758-174_758-171delinsAATG (ADA)
NM_000022.4:c.607-174_607-171delinsAATG (ADA) MANE Select NP_000013.2:n.607-174_607-171delinsAATG
NM_001322050.2:c.202-174_202-171delinsAATG (ADA) NP_001308979.1:n.202-174_202-171delinsAATG
NM_001322051.2:c.607-322_607-319delinsAATG (ADA) NP_001308980.1:n.607-322_607-319delinsAATG
NR_136160.2:n.699-174_699-171delinsAATG (ADA)
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