Canonical Allele Identifier: CA1017791792

Gene: ADA

Linked Data

• gnomAD v3: 20-44625246-C-CTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAA
• gnomAD v4: 20-44625246-C-CTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44625248_44625304dup , CM000682.2:g.44625248_44625304dup	GRCh38
NC_000020.10:g.43253889_43253945dup , CM000682.1:g.43253889_43253945dup	GRCh37
NC_000020.9:g.42687303_42687359dup	NCBI36
NG_007385.1:g.31433_31489dup , LRG_16:g.31433_31489dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.569+266_569+322dup
ENST00000536076.2:c.325+266_325+322dup	ENSP00000512234.1:n.325+266_325+322dup
ENST00000536532.6:c.478+266_478+322dup	ENSP00000440946.1:n.478+266_478+322dup
ENST00000537820.2:c.478+266_478+322dup	ENSP00000441818.1:n.478+266_478+322dup
ENST00000539235.6:c.219-2225_219-2169dup	ENSP00000446464.1:n.219-2225_219-2169dup
ENST00000695889.1:c.219-2373_219-2317dup	ENSP00000512240.1:n.219-2373_219-2317dup
ENST00000695890.1:n.2281+266_2281+322dup
ENST00000695891.1:c.219-2373_219-2317dup	ENSP00000512241.1:n.219-2373_219-2317dup
ENST00000695927.1:c.556+266_556+322dup	ENSP00000512270.1:n.556+266_556+322dup
ENST00000695949.1:c.475+266_475+322dup	ENSP00000512281.1:n.475+266_475+322dup
ENST00000695957.1:c.363-974_363-918dup	ENSP00000512286.1:n.363-974_363-918dup
ENST00000695991.1:c.217-2373_217-2317dup	ENSP00000512314.1:n.217-2373_217-2317dup
ENST00000695992.1:c.478+266_478+322dup	ENSP00000512315.1:n.478+266_478+322dup
ENST00000695993.1:c.478+266_478+322dup	ENSP00000512316.1:n.478+266_478+322dup
ENST00000695994.1:c.478+266_478+322dup	ENSP00000512317.1:n.478+266_478+322dup
ENST00000695995.1:c.217-2225_217-2169dup	ENSP00000512318.1:n.217-2225_217-2169dup
ENST00000695996.1:n.549+266_549+322dup
ENST00000695997.1:n.434-974_434-918dup
ENST00000696003.1:n.570+266_570+322dup
ENST00000696004.1:n.570+266_570+322dup
ENST00000696006.1:c.478+266_478+322dup	ENSP00000512325.1:n.478+266_478+322dup
ENST00000696007.1:c.330-974_330-918dup	ENSP00000512326.1:n.330-974_330-918dup
ENST00000696008.1:n.660_716dup
ENST00000696009.1:n.855_911dup
ENST00000696017.1:c.475+266_475+322dup	ENSP00000512333.1:n.475+266_475+322dup
ENST00000696034.1:c.478+266_478+322dup	ENSP00000512343.1:n.478+266_478+322dup
ENST00000696035.1:n.588+266_588+322dup
ENST00000696036.1:n.1168+266_1168+322dup
ENST00000696037.1:n.2155+266_2155+322dup
ENST00000696038.1:c.*224+266_*224+322dup	ENSP00000512344.1:n.*224+266_*224+322dup
ENST00000696039.1:n.766+266_766+322dup
ENST00000696058.1:c.478+266_478+322dup	ENSP00000512361.1:n.478+266_478+322dup
ENST00000696059.1:c.*423+266_*423+322dup	ENSP00000512362.1:n.*423+266_*423+322dup
ENST00000696060.1:c.478+266_478+322dup	ENSP00000512363.1:n.478+266_478+322dup
ENST00000696061.1:c.475+266_475+322dup	ENSP00000512364.1:n.475+266_475+322dup
ENST00000696062.1:c.541+266_541+322dup	ENSP00000512365.1:n.541+266_541+322dup
ENST00000696063.1:c.553+266_553+322dup	ENSP00000512366.1:n.553+266_553+322dup
ENST00000696064.1:c.325+266_325+322dup	ENSP00000512367.1:n.325+266_325+322dup
ENST00000696065.1:c.66-2373_66-2317dup	ENSP00000512368.1:n.66-2373_66-2317dup
ENST00000696075.1:c.*448+266_*448+322dup	ENSP00000512374.1:n.*448+266_*448+322dup
ENST00000696076.1:c.478+266_478+322dup	ENSP00000512375.1:n.478+266_478+322dup
ENST00000696077.1:c.475+266_475+322dup	ENSP00000512376.1:n.475+266_475+322dup
ENST00000696078.1:c.478+266_478+322dup	ENSP00000512377.1:n.478+266_478+322dup
ENST00000696079.1:c.478+266_478+322dup	ENSP00000512378.1:n.478+266_478+322dup
ENST00000696080.1:c.478+266_478+322dup	ENSP00000512379.1:n.478+266_478+322dup
ENST00000696082.1:c.556+266_556+322dup	ENSP00000512380.1:n.556+266_556+322dup
ENST00000696083.1:n.386_442dup
ENST00000696084.1:n.579+266_579+322dup
ENST00000696104.1:c.362+1153_362+1209dup	ENSP00000512399.1:n.362+1153_362+1209dup
ENST00000696105.1:c.478+266_478+322dup	ENSP00000512400.1:n.478+266_478+322dup
ENST00000372874.9:c.478+266_478+322dup MANE Select	ENSP00000361965.4:n.478+266_478+322dup
ENST00000372874.8:c.478+266_478+322dup	ENSP00000361965.4:n.478+266_478+322dup
ENST00000464097.5:n.152+266_152+322dup
ENST00000492931.5:n.562+266_562+322dup
ENST00000536532.5:c.478+266_478+322dup	ENSP00000440946.1:n.478+266_478+322dup
ENST00000537820.1:c.478+266_478+322dup	ENSP00000441818.1:n.478+266_478+322dup
ENST00000539235.5:c.219-2225_219-2169dup	ENSP00000446464.1:n.219-2225_219-2169dup
NM_000022.2:c.478+266_478+322dup , LRG_16t1:c.478+266_478+322dup	NP_000013.2:n.478+266_478+322dup
XM_005260236.2:c.478+266_478+322dup	XP_005260293.1:n.478+266_478+322dup
XM_011528478.1:c.74-974_74-918dup	XP_011526780.1:n.74-974_74-918dup
XM_011528479.1:c.74-974_74-918dup	XP_011526781.1:n.74-974_74-918dup
XR_244129.1:n.532+266_532+322dup
NM_000022.3:c.478+266_478+322dup	NP_000013.2:n.478+266_478+322dup
NM_001322050.1:c.74-974_74-918dup	NP_001308979.1:n.74-974_74-918dup
NM_001322051.1:c.478+266_478+322dup	NP_001308980.1:n.478+266_478+322dup
NR_136160.1:n.629+266_629+322dup
NM_000022.4:c.478+266_478+322dup MANE Select	NP_000013.2:n.478+266_478+322dup
NM_001322050.2:c.74-974_74-918dup	NP_001308979.1:n.74-974_74-918dup
NM_001322051.2:c.478+266_478+322dup	NP_001308980.1:n.478+266_478+322dup
NR_136160.2:n.570+266_570+322dup