Canonical Allele Identifier: CA2953659037
Gene: ADA HGNC NCBI
PKIG HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44622715_44622716insGGGGGAGGAA , CM000682.2:g.44622715_44622716insGGGGGAGGAA GRCh38
NC_000020.10:g.43251356_43251357insGGGGGAGGAA , CM000682.1:g.43251356_43251357insGGGGGAGGAA GRCh37
NC_000020.9:g.42684770_42684771insGGGGGAGGAA NCBI36
NG_007385.1:g.34020_34021insTTCCTCCCCC , LRG_16:g.34020_34021insTTCCTCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.948-64_948-63insTTCCTCCCCC (ADA)
ENST00000536076.2:c.628-64_628-63insTTCCTCCCCC (ADA) ENSP00000512234.1:n.628-64_628-63insTTCCTCCCCC
ENST00000536532.6:c.780+113_780+114insTTCCTCCCCC (ADA) ENSP00000440946.1:n.780+113_780+114insTTCCTCCCCC
ENST00000537820.2:c.709-64_709-63insTTCCTCCCCC (ADA) ENSP00000441818.1:n.709-64_709-63insTTCCTCCCCC
ENST00000539235.6:c.*165-64_*165-63insTTCCTCCCCC (ADA) ENSP00000446464.1:n.*165-64_*165-63insTTCCTCCCCC
ENST00000695889.1:c.320+113_320+114insTTCCTCCCCC (ADA) ENSP00000512240.1:n.320+113_320+114insTTCCTCCCCC
ENST00000695890.1:n.2772_2773insTTCCTCCCCC (ADA)
ENST00000695891.1:c.321-64_321-63insTTCCTCCCCC (ADA) ENSP00000512241.1:n.321-64_321-63insTTCCTCCCCC
ENST00000695927.1:c.859-64_859-63insTTCCTCCCCC (ADA) ENSP00000512270.1:n.859-64_859-63insTTCCTCCCCC
ENST00000695949.1:c.706-64_706-63insTTCCTCCCCC (ADA) ENSP00000512281.1:n.706-64_706-63insTTCCTCCCCC
ENST00000695957.1:c.*272-64_*272-63insTTCCTCCCCC (ADA) ENSP00000512286.1:n.*272-64_*272-63insTTCCTCCCCC
ENST00000695991.1:c.319-64_319-63insTTCCTCCCCC (ADA) ENSP00000512314.1:n.319-64_319-63insTTCCTCCCCC
ENST00000695992.1:c.780+113_780+114insTTCCTCCCCC (ADA) ENSP00000512315.1:n.780+113_780+114insTTCCTCCCCC
ENST00000695993.1:c.781-64_781-63insTTCCTCCCCC (ADA) ENSP00000512316.1:n.781-64_781-63insTTCCTCCCCC
ENST00000695994.1:c.753+113_753+114insTTCCTCCCCC (ADA) ENSP00000512317.1:n.753+113_753+114insTTCCTCCCCC
ENST00000695995.1:c.391-64_391-63insTTCCTCCCCC (ADA) ENSP00000512318.1:n.391-64_391-63insTTCCTCCCCC
ENST00000695996.1:n.927+113_927+114insTTCCTCCCCC (ADA)
ENST00000696003.1:n.1061_1062insTTCCTCCCCC (ADA)
ENST00000696004.1:n.949-64_949-63insTTCCTCCCCC (ADA)
ENST00000696005.1:c.231-64_231-63insTTCCTCCCCC (ADA)
ENST00000696006.1:c.708+113_708+114insTTCCTCCCCC (ADA) ENSP00000512325.1:n.708+113_708+114insTTCCTCCCCC
ENST00000696007.1:c.708-64_708-63insTTCCTCCCCC (ADA) ENSP00000512326.1:n.708-64_708-63insTTCCTCCCCC
ENST00000696008.1:n.3135-64_3135-63insTTCCTCCCCC (ADA)
ENST00000696017.1:c.778-64_778-63insTTCCTCCCCC (ADA) ENSP00000512333.1:n.778-64_778-63insTTCCTCCCCC
ENST00000696034.1:c.780+113_780+114insTTCCTCCCCC (ADA) ENSP00000512343.1:n.780+113_780+114insTTCCTCCCCC
ENST00000696035.1:n.967-64_967-63insTTCCTCCCCC (ADA)
ENST00000696036.1:n.1546+113_1546+114insTTCCTCCCCC (ADA)
ENST00000696037.1:n.2458-64_2458-63insTTCCTCCCCC (ADA)
ENST00000696038.1:c.*602+113_*602+114insTTCCTCCCCC (ADA) ENSP00000512344.1:n.*602+113_*602+114insTTCCTCCCCC
ENST00000696039.1:n.1145-64_1145-63insTTCCTCCCCC (ADA)
ENST00000696058.1:c.778-64_778-63insTTCCTCCCCC (ADA) ENSP00000512361.1:n.778-64_778-63insTTCCTCCCCC
ENST00000696059.1:c.*726-64_*726-63insTTCCTCCCCC (ADA) ENSP00000512362.1:n.*726-64_*726-63insTTCCTCCCCC
ENST00000696060.1:c.850-64_850-63insTTCCTCCCCC (ADA) ENSP00000512363.1:n.850-64_850-63insTTCCTCCCCC
ENST00000696061.1:c.778-64_778-63insTTCCTCCCCC (ADA) ENSP00000512364.1:n.778-64_778-63insTTCCTCCCCC
ENST00000696062.1:c.844-64_844-63insTTCCTCCCCC (ADA) ENSP00000512365.1:n.844-64_844-63insTTCCTCCCCC
ENST00000696063.1:c.856-64_856-63insTTCCTCCCCC (ADA) ENSP00000512366.1:n.856-64_856-63insTTCCTCCCCC
ENST00000696064.1:c.628-64_628-63insTTCCTCCCCC (ADA) ENSP00000512367.1:n.628-64_628-63insTTCCTCCCCC
ENST00000696065.1:c.167+113_167+114insTTCCTCCCCC (ADA) ENSP00000512368.1:n.167+113_167+114insTTCCTCCCCC
ENST00000696073.1:n.1092-64_1092-63insTTCCTCCCCC (ADA)
ENST00000696074.1:n.396+113_396+114insTTCCTCCCCC (ADA)
ENST00000696075.1:c.*751-64_*751-63insTTCCTCCCCC (ADA) ENSP00000512374.1:n.*751-64_*751-63insTTCCTCCCCC
ENST00000696076.1:c.850-64_850-63insTTCCTCCCCC (ADA) ENSP00000512375.1:n.850-64_850-63insTTCCTCCCCC
ENST00000696077.1:c.775-64_775-63insTTCCTCCCCC (ADA) ENSP00000512376.1:n.775-64_775-63insTTCCTCCCCC
ENST00000696078.1:c.778-64_778-63insTTCCTCCCCC (ADA) ENSP00000512377.1:n.778-64_778-63insTTCCTCCCCC
ENST00000696079.1:c.778-64_778-63insTTCCTCCCCC (ADA) ENSP00000512378.1:n.778-64_778-63insTTCCTCCCCC
ENST00000696080.1:c.781-64_781-63insTTCCTCCCCC (ADA) ENSP00000512379.1:n.781-64_781-63insTTCCTCCCCC
ENST00000696081.1:n.900-64_900-63insTTCCTCCCCC (ADA)
ENST00000696082.1:c.856-64_856-63insTTCCTCCCCC (ADA) ENSP00000512380.1:n.856-64_856-63insTTCCTCCCCC
ENST00000696083.1:n.1738-64_1738-63insTTCCTCCCCC (ADA)
ENST00000696084.1:n.958-64_958-63insTTCCTCCCCC (ADA)
ENST00000696104.1:c.465-64_465-63insTTCCTCCCCC (ADA) ENSP00000512399.1:n.465-64_465-63insTTCCTCCCCC
ENST00000372874.9:c.781-64_781-63insTTCCTCCCCC (ADA) MANE Select ENSP00000361965.4:n.781-64_781-63insTTCCTCCCCC
ENST00000372874.8:c.781-64_781-63insTTCCTCCCCC (ADA) ENSP00000361965.4:n.781-64_781-63insTTCCTCCCCC
ENST00000372887.5:c.152-1218_152-1217insGGGGGAGGAA (PKIG) ENSP00000361978.1:n.152-1218_152-1217insGGGGGAGGAA
ENST00000464097.5:n.531-64_531-63insTTCCTCCCCC (ADA)
ENST00000492931.5:n.941-64_941-63insTTCCTCCCCC (ADA)
ENST00000536532.5:c.780+113_780+114insTTCCTCCCCC (ADA) ENSP00000440946.1:n.780+113_780+114insTTCCTCCCCC
ENST00000537820.1:c.709-64_709-63insTTCCTCCCCC (ADA) ENSP00000441818.1:n.709-64_709-63insTTCCTCCCCC
ENST00000539235.5:c.*165-64_*165-63insTTCCTCCCCC (ADA) ENSP00000446464.1:n.*165-64_*165-63insTTCCTCCCCC
NM_000022.2:c.781-64_781-63insTTCCTCCCCC , LRG_16t1:c.781-64_781-63insTTCCTCCCCC (ADA) NP_000013.2:n.781-64_781-63insTTCCTCCCCC
XM_005260236.2:c.709-64_709-63insTTCCTCCCCC (ADA) XP_005260293.1:n.709-64_709-63insTTCCTCCCCC
XM_011528478.1:c.376-64_376-63insTTCCTCCCCC (ADA) XP_011526780.1:n.376-64_376-63insTTCCTCCCCC
XM_011528479.1:c.376-64_376-63insTTCCTCCCCC (ADA) XP_011526781.1:n.376-64_376-63insTTCCTCCCCC
XR_244129.1:n.834+113_834+114insTTCCTCCCCC (ADA)
NM_000022.3:c.781-64_781-63insTTCCTCCCCC (ADA) NP_000013.2:n.781-64_781-63insTTCCTCCCCC
NM_001322050.1:c.376-64_376-63insTTCCTCCCCC (ADA) NP_001308979.1:n.376-64_376-63insTTCCTCCCCC
NM_001322051.1:c.709-64_709-63insTTCCTCCCCC (ADA) NP_001308980.1:n.709-64_709-63insTTCCTCCCCC
NR_136160.1:n.931+113_931+114insTTCCTCCCCC (ADA)
NM_000022.4:c.781-64_781-63insTTCCTCCCCC (ADA) MANE Select NP_000013.2:n.781-64_781-63insTTCCTCCCCC
NM_001322050.2:c.376-64_376-63insTTCCTCCCCC (ADA) NP_001308979.1:n.376-64_376-63insTTCCTCCCCC
NM_001322051.2:c.709-64_709-63insTTCCTCCCCC (ADA) NP_001308980.1:n.709-64_709-63insTTCCTCCCCC
NR_136160.2:n.872+113_872+114insTTCCTCCCCC (ADA)
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