Canonical Allele Identifier: CA2652991001

Gene: ADA

Linked Data

• gnomAD v4: 20-44625479-G-GGGGAGATCAGGTACAGCCCCACTGCTAGGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44625480_44625510dup , CM000682.2:g.44625480_44625510dup	GRCh38
NC_000020.10:g.43254121_43254151dup , CM000682.1:g.43254121_43254151dup	GRCh37
NC_000020.9:g.42687535_42687565dup	NCBI36
NG_007385.1:g.31226_31256dup , LRG_16:g.31226_31256dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.569+59_569+89dup
ENST00000536076.2:c.325+59_325+89dup	ENSP00000512234.1:n.325+59_325+89dup
ENST00000536532.6:c.478+59_478+89dup	ENSP00000440946.1:n.478+59_478+89dup
ENST00000537820.2:c.478+59_478+89dup	ENSP00000441818.1:n.478+59_478+89dup
ENST00000539235.6:c.219-2432_219-2402dup	ENSP00000446464.1:n.219-2432_219-2402dup
ENST00000695889.1:c.219-2580_219-2550dup	ENSP00000512240.1:n.219-2580_219-2550dup
ENST00000695890.1:n.2281+59_2281+89dup
ENST00000695891.1:c.219-2580_219-2550dup	ENSP00000512241.1:n.219-2580_219-2550dup
ENST00000695927.1:c.556+59_556+89dup	ENSP00000512270.1:n.556+59_556+89dup
ENST00000695949.1:c.475+59_475+89dup	ENSP00000512281.1:n.475+59_475+89dup
ENST00000695957.1:c.362+946_362+976dup	ENSP00000512286.1:n.362+946_362+976dup
ENST00000695991.1:c.217-2580_217-2550dup	ENSP00000512314.1:n.217-2580_217-2550dup
ENST00000695992.1:c.478+59_478+89dup	ENSP00000512315.1:n.478+59_478+89dup
ENST00000695993.1:c.478+59_478+89dup	ENSP00000512316.1:n.478+59_478+89dup
ENST00000695994.1:c.478+59_478+89dup	ENSP00000512317.1:n.478+59_478+89dup
ENST00000695995.1:c.217-2432_217-2402dup	ENSP00000512318.1:n.217-2432_217-2402dup
ENST00000695996.1:n.549+59_549+89dup
ENST00000695997.1:n.433+946_433+976dup
ENST00000696003.1:n.570+59_570+89dup
ENST00000696004.1:n.570+59_570+89dup
ENST00000696006.1:c.478+59_478+89dup	ENSP00000512325.1:n.478+59_478+89dup
ENST00000696007.1:c.329+946_329+976dup	ENSP00000512326.1:n.329+946_329+976dup
ENST00000696008.1:n.453_483dup
ENST00000696009.1:n.648_678dup
ENST00000696017.1:c.475+59_475+89dup	ENSP00000512333.1:n.475+59_475+89dup
ENST00000696034.1:c.478+59_478+89dup	ENSP00000512343.1:n.478+59_478+89dup
ENST00000696035.1:n.588+59_588+89dup
ENST00000696036.1:n.1168+59_1168+89dup
ENST00000696037.1:n.2155+59_2155+89dup
ENST00000696038.1:c.*224+59_*224+89dup	ENSP00000512344.1:n.*224+59_*224+89dup
ENST00000696039.1:n.766+59_766+89dup
ENST00000696058.1:c.478+59_478+89dup	ENSP00000512361.1:n.478+59_478+89dup
ENST00000696059.1:c.*423+59_*423+89dup	ENSP00000512362.1:n.*423+59_*423+89dup
ENST00000696060.1:c.478+59_478+89dup	ENSP00000512363.1:n.478+59_478+89dup
ENST00000696061.1:c.475+59_475+89dup	ENSP00000512364.1:n.475+59_475+89dup
ENST00000696062.1:c.541+59_541+89dup	ENSP00000512365.1:n.541+59_541+89dup
ENST00000696063.1:c.553+59_553+89dup	ENSP00000512366.1:n.553+59_553+89dup
ENST00000696064.1:c.325+59_325+89dup	ENSP00000512367.1:n.325+59_325+89dup
ENST00000696065.1:c.66-2580_66-2550dup	ENSP00000512368.1:n.66-2580_66-2550dup
ENST00000696075.1:c.*448+59_*448+89dup	ENSP00000512374.1:n.*448+59_*448+89dup
ENST00000696076.1:c.478+59_478+89dup	ENSP00000512375.1:n.478+59_478+89dup
ENST00000696077.1:c.475+59_475+89dup	ENSP00000512376.1:n.475+59_475+89dup
ENST00000696078.1:c.478+59_478+89dup	ENSP00000512377.1:n.478+59_478+89dup
ENST00000696079.1:c.478+59_478+89dup	ENSP00000512378.1:n.478+59_478+89dup
ENST00000696080.1:c.478+59_478+89dup	ENSP00000512379.1:n.478+59_478+89dup
ENST00000696082.1:c.556+59_556+89dup	ENSP00000512380.1:n.556+59_556+89dup
ENST00000696083.1:n.179_209dup
ENST00000696084.1:n.579+59_579+89dup
ENST00000696104.1:c.362+946_362+976dup	ENSP00000512399.1:n.362+946_362+976dup
ENST00000696105.1:c.478+59_478+89dup	ENSP00000512400.1:n.478+59_478+89dup
ENST00000372874.9:c.478+59_478+89dup MANE Select	ENSP00000361965.4:n.478+59_478+89dup
ENST00000372874.8:c.478+59_478+89dup	ENSP00000361965.4:n.478+59_478+89dup
ENST00000464097.5:n.152+59_152+89dup
ENST00000492931.5:n.562+59_562+89dup
ENST00000536532.5:c.478+59_478+89dup	ENSP00000440946.1:n.478+59_478+89dup
ENST00000537820.1:c.478+59_478+89dup	ENSP00000441818.1:n.478+59_478+89dup
ENST00000539235.5:c.219-2432_219-2402dup	ENSP00000446464.1:n.219-2432_219-2402dup
NM_000022.2:c.478+59_478+89dup , LRG_16t1:c.478+59_478+89dup	NP_000013.2:n.478+59_478+89dup
XM_005260236.2:c.478+59_478+89dup	XP_005260293.1:n.478+59_478+89dup
XM_011528478.1:c.73+946_73+976dup	XP_011526780.1:n.73+946_73+976dup
XM_011528479.1:c.73+946_73+976dup	XP_011526781.1:n.73+946_73+976dup
XR_244129.1:n.532+59_532+89dup
NM_000022.3:c.478+59_478+89dup	NP_000013.2:n.478+59_478+89dup
NM_001322050.1:c.73+946_73+976dup	NP_001308979.1:n.73+946_73+976dup
NM_001322051.1:c.478+59_478+89dup	NP_001308980.1:n.478+59_478+89dup
NR_136160.1:n.629+59_629+89dup
NM_000022.4:c.478+59_478+89dup MANE Select	NP_000013.2:n.478+59_478+89dup
NM_001322050.2:c.73+946_73+976dup	NP_001308979.1:n.73+946_73+976dup
NM_001322051.2:c.478+59_478+89dup	NP_001308980.1:n.478+59_478+89dup
NR_136160.2:n.570+59_570+89dup