Canonical Allele Identifier: CA2365857554

Gene: ADA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44626447_44626451delinsATCAC , CM000682.2:g.44626447_44626451delinsATCAC	GRCh38
NC_000020.10:g.43255088_43255092delinsATCAC , CM000682.1:g.43255088_43255092delinsATCAC	GRCh37
NC_000020.9:g.42688502_42688506delinsATCAC	NCBI36
NG_007385.1:g.30285_30289delinsGTGAT , LRG_16:g.30285_30289delinsGTGAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.453+5_453+9delinsGTGAT
ENST00000536076.2:c.209+5_209+9delinsGTGAT	ENSP00000512234.1:n.209+5_209+9delinsGTGAT
ENST00000536532.6:c.362+5_362+9delinsGTGAT	ENSP00000440946.1:n.362+5_362+9delinsGTGAT
ENST00000537820.2:c.362+5_362+9delinsGTGAT	ENSP00000441818.1:n.362+5_362+9delinsGTGAT
ENST00000539235.6:c.218+2596_218+2600delinsGTGAT	ENSP00000446464.1:n.218+2596_218+2600delinsGTGAT
ENST00000695889.1:c.218+2596_218+2600delinsGTGAT	ENSP00000512240.1:n.218+2596_218+2600delinsGTGAT
ENST00000695890.1:n.2165+5_2165+9delinsGTGAT
ENST00000695891.1:c.218+2596_218+2600delinsGTGAT	ENSP00000512241.1:n.218+2596_218+2600delinsGTGAT
ENST00000695927.1:c.440+5_440+9delinsGTGAT	ENSP00000512270.1:n.440+5_440+9delinsGTGAT
ENST00000695949.1:c.359+5_359+9delinsGTGAT	ENSP00000512281.1:n.359+5_359+9delinsGTGAT
ENST00000695957.1:c.362+5_362+9delinsGTGAT	ENSP00000512286.1:n.362+5_362+9delinsGTGAT
ENST00000695991.1:c.216+2598_216+2602delinsGTGAT	ENSP00000512314.1:n.216+2598_216+2602delinsGTGAT
ENST00000695992.1:c.362+5_362+9delinsGTGAT	ENSP00000512315.1:n.362+5_362+9delinsGTGAT
ENST00000695993.1:c.362+5_362+9delinsGTGAT	ENSP00000512316.1:n.362+5_362+9delinsGTGAT
ENST00000695994.1:c.362+5_362+9delinsGTGAT	ENSP00000512317.1:n.362+5_362+9delinsGTGAT
ENST00000695995.1:c.216+2598_216+2602delinsGTGAT	ENSP00000512318.1:n.216+2598_216+2602delinsGTGAT
ENST00000695996.1:n.433+5_433+9delinsGTGAT
ENST00000695997.1:n.433+5_433+9delinsGTGAT
ENST00000696003.1:n.454+5_454+9delinsGTGAT
ENST00000696004.1:n.454+5_454+9delinsGTGAT
ENST00000696006.1:c.362+5_362+9delinsGTGAT	ENSP00000512325.1:n.362+5_362+9delinsGTGAT
ENST00000696007.1:c.329+5_329+9delinsGTGAT	ENSP00000512326.1:n.329+5_329+9delinsGTGAT
ENST00000696009.1:n.473+5_473+9delinsGTGAT
ENST00000696017.1:c.359+5_359+9delinsGTGAT	ENSP00000512333.1:n.359+5_359+9delinsGTGAT
ENST00000696034.1:c.362+5_362+9delinsGTGAT	ENSP00000512343.1:n.362+5_362+9delinsGTGAT
ENST00000696035.1:n.472+5_472+9delinsGTGAT
ENST00000696036.1:n.1052+5_1052+9delinsGTGAT
ENST00000696037.1:n.2039+5_2039+9delinsGTGAT
ENST00000696038.1:c.*108+5_*108+9delinsGTGAT	ENSP00000512344.1:n.*108+5_*108+9delinsGTGAT
ENST00000696039.1:n.650+5_650+9delinsGTGAT
ENST00000696058.1:c.362+5_362+9delinsGTGAT	ENSP00000512361.1:n.362+5_362+9delinsGTGAT
ENST00000696059.1:c.*307+5_*307+9delinsGTGAT	ENSP00000512362.1:n.*307+5_*307+9delinsGTGAT
ENST00000696060.1:c.362+5_362+9delinsGTGAT	ENSP00000512363.1:n.362+5_362+9delinsGTGAT
ENST00000696061.1:c.359+5_359+9delinsGTGAT	ENSP00000512364.1:n.359+5_359+9delinsGTGAT
ENST00000696062.1:c.425+5_425+9delinsGTGAT	ENSP00000512365.1:n.425+5_425+9delinsGTGAT
ENST00000696063.1:c.437+5_437+9delinsGTGAT	ENSP00000512366.1:n.437+5_437+9delinsGTGAT
ENST00000696064.1:c.209+5_209+9delinsGTGAT	ENSP00000512367.1:n.209+5_209+9delinsGTGAT
ENST00000696065.1:c.65+2596_65+2600delinsGTGAT	ENSP00000512368.1:n.65+2596_65+2600delinsGTGAT
ENST00000696075.1:c.*332+5_*332+9delinsGTGAT	ENSP00000512374.1:n.*332+5_*332+9delinsGTGAT
ENST00000696076.1:c.362+5_362+9delinsGTGAT	ENSP00000512375.1:n.362+5_362+9delinsGTGAT
ENST00000696077.1:c.359+5_359+9delinsGTGAT	ENSP00000512376.1:n.359+5_359+9delinsGTGAT
ENST00000696078.1:c.362+5_362+9delinsGTGAT	ENSP00000512377.1:n.362+5_362+9delinsGTGAT
ENST00000696079.1:c.362+5_362+9delinsGTGAT	ENSP00000512378.1:n.362+5_362+9delinsGTGAT
ENST00000696080.1:c.362+5_362+9delinsGTGAT	ENSP00000512379.1:n.362+5_362+9delinsGTGAT
ENST00000696082.1:c.440+5_440+9delinsGTGAT	ENSP00000512380.1:n.440+5_440+9delinsGTGAT
ENST00000696084.1:n.463+5_463+9delinsGTGAT
ENST00000696104.1:c.362+5_362+9delinsGTGAT	ENSP00000512399.1:n.362+5_362+9delinsGTGAT
ENST00000696105.1:c.362+5_362+9delinsGTGAT	ENSP00000512400.1:n.362+5_362+9delinsGTGAT
ENST00000372874.9:c.362+5_362+9delinsGTGAT MANE Select	ENSP00000361965.4:n.362+5_362+9delinsGTGAT
ENST00000372874.8:c.362+5_362+9delinsGTGAT	ENSP00000361965.4:n.362+5_362+9delinsGTGAT
ENST00000464097.5:n.36+5_36+9delinsGTGAT
ENST00000492931.5:n.446+5_446+9delinsGTGAT
ENST00000536532.5:c.362+5_362+9delinsGTGAT	ENSP00000440946.1:n.362+5_362+9delinsGTGAT
ENST00000537820.1:c.362+5_362+9delinsGTGAT	ENSP00000441818.1:n.362+5_362+9delinsGTGAT
ENST00000539235.5:c.218+2596_218+2600delinsGTGAT	ENSP00000446464.1:n.218+2596_218+2600delinsGTGAT
ENST00000545776.5:n.421_425delinsGTGAT
NM_000022.2:c.362+5_362+9delinsGTGAT , LRG_16t1:c.362+5_362+9delinsGTGAT	NP_000013.2:n.362+5_362+9delinsGTGAT
XM_005260236.2:c.362+5_362+9delinsGTGAT	XP_005260293.1:n.362+5_362+9delinsGTGAT
XM_011528478.1:c.73+5_73+9delinsGTGAT	XP_011526780.1:n.73+5_73+9delinsGTGAT
XM_011528479.1:c.73+5_73+9delinsGTGAT	XP_011526781.1:n.73+5_73+9delinsGTGAT
XR_244129.1:n.416+5_416+9delinsGTGAT
NM_000022.3:c.362+5_362+9delinsGTGAT	NP_000013.2:n.362+5_362+9delinsGTGAT
NM_001322050.1:c.73+5_73+9delinsGTGAT	NP_001308979.1:n.73+5_73+9delinsGTGAT
NM_001322051.1:c.362+5_362+9delinsGTGAT	NP_001308980.1:n.362+5_362+9delinsGTGAT
NR_136160.1:n.513+5_513+9delinsGTGAT
NM_000022.4:c.362+5_362+9delinsGTGAT MANE Select	NP_000013.2:n.362+5_362+9delinsGTGAT
NM_001322050.2:c.73+5_73+9delinsGTGAT	NP_001308979.1:n.73+5_73+9delinsGTGAT
NM_001322051.2:c.362+5_362+9delinsGTGAT	NP_001308980.1:n.362+5_362+9delinsGTGAT
NR_136160.2:n.454+5_454+9delinsGTGAT