Canonical Allele Identifier: CA2652990964

Gene: ADA

Linked Data

• gnomAD v4: 20-44625434-TCATGCCAGTGGGCTCAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44625435_44625451del , CM000682.2:g.44625435_44625451del	GRCh38
NC_000020.10:g.43254076_43254092del , CM000682.1:g.43254076_43254092del	GRCh37
NC_000020.9:g.42687490_42687506del	NCBI36
NG_007385.1:g.31285_31301del , LRG_16:g.31285_31301del

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.569+118_569+134del
ENST00000536076.2:c.325+118_325+134del	ENSP00000512234.1:n.325+118_325+134del
ENST00000536532.6:c.478+118_478+134del	ENSP00000440946.1:n.478+118_478+134del
ENST00000537820.2:c.478+118_478+134del	ENSP00000441818.1:n.478+118_478+134del
ENST00000539235.6:c.219-2373_219-2357del	ENSP00000446464.1:n.219-2373_219-2357del
ENST00000695889.1:c.219-2521_219-2505del	ENSP00000512240.1:n.219-2521_219-2505del
ENST00000695890.1:n.2281+118_2281+134del
ENST00000695891.1:c.219-2521_219-2505del	ENSP00000512241.1:n.219-2521_219-2505del
ENST00000695927.1:c.556+118_556+134del	ENSP00000512270.1:n.556+118_556+134del
ENST00000695949.1:c.475+118_475+134del	ENSP00000512281.1:n.475+118_475+134del
ENST00000695957.1:c.362+1005_362+1021del	ENSP00000512286.1:n.362+1005_362+1021del
ENST00000695991.1:c.217-2521_217-2505del	ENSP00000512314.1:n.217-2521_217-2505del
ENST00000695992.1:c.478+118_478+134del	ENSP00000512315.1:n.478+118_478+134del
ENST00000695993.1:c.478+118_478+134del	ENSP00000512316.1:n.478+118_478+134del
ENST00000695994.1:c.478+118_478+134del	ENSP00000512317.1:n.478+118_478+134del
ENST00000695995.1:c.217-2373_217-2357del	ENSP00000512318.1:n.217-2373_217-2357del
ENST00000695996.1:n.549+118_549+134del
ENST00000695997.1:n.433+1005_433+1021del
ENST00000696003.1:n.570+118_570+134del
ENST00000696004.1:n.570+118_570+134del
ENST00000696006.1:c.478+118_478+134del	ENSP00000512325.1:n.478+118_478+134del
ENST00000696007.1:c.329+1005_329+1021del	ENSP00000512326.1:n.329+1005_329+1021del
ENST00000696008.1:n.512_528del
ENST00000696009.1:n.707_723del
ENST00000696017.1:c.475+118_475+134del	ENSP00000512333.1:n.475+118_475+134del
ENST00000696034.1:c.478+118_478+134del	ENSP00000512343.1:n.478+118_478+134del
ENST00000696035.1:n.588+118_588+134del
ENST00000696036.1:n.1168+118_1168+134del
ENST00000696037.1:n.2155+118_2155+134del
ENST00000696038.1:c.*224+118_*224+134del	ENSP00000512344.1:n.*224+118_*224+134del
ENST00000696039.1:n.766+118_766+134del
ENST00000696058.1:c.478+118_478+134del	ENSP00000512361.1:n.478+118_478+134del
ENST00000696059.1:c.*423+118_*423+134del	ENSP00000512362.1:n.*423+118_*423+134del
ENST00000696060.1:c.478+118_478+134del	ENSP00000512363.1:n.478+118_478+134del
ENST00000696061.1:c.475+118_475+134del	ENSP00000512364.1:n.475+118_475+134del
ENST00000696062.1:c.541+118_541+134del	ENSP00000512365.1:n.541+118_541+134del
ENST00000696063.1:c.553+118_553+134del	ENSP00000512366.1:n.553+118_553+134del
ENST00000696064.1:c.325+118_325+134del	ENSP00000512367.1:n.325+118_325+134del
ENST00000696065.1:c.66-2521_66-2505del	ENSP00000512368.1:n.66-2521_66-2505del
ENST00000696075.1:c.*448+118_*448+134del	ENSP00000512374.1:n.*448+118_*448+134del
ENST00000696076.1:c.478+118_478+134del	ENSP00000512375.1:n.478+118_478+134del
ENST00000696077.1:c.475+118_475+134del	ENSP00000512376.1:n.475+118_475+134del
ENST00000696078.1:c.478+118_478+134del	ENSP00000512377.1:n.478+118_478+134del
ENST00000696079.1:c.478+118_478+134del	ENSP00000512378.1:n.478+118_478+134del
ENST00000696080.1:c.478+118_478+134del	ENSP00000512379.1:n.478+118_478+134del
ENST00000696082.1:c.556+118_556+134del	ENSP00000512380.1:n.556+118_556+134del
ENST00000696083.1:n.238_254del
ENST00000696084.1:n.579+118_579+134del
ENST00000696104.1:c.362+1005_362+1021del	ENSP00000512399.1:n.362+1005_362+1021del
ENST00000696105.1:c.478+118_478+134del	ENSP00000512400.1:n.478+118_478+134del
ENST00000372874.9:c.478+118_478+134del MANE Select	ENSP00000361965.4:n.478+118_478+134del
ENST00000372874.8:c.478+118_478+134del	ENSP00000361965.4:n.478+118_478+134del
ENST00000464097.5:n.152+118_152+134del
ENST00000492931.5:n.562+118_562+134del
ENST00000536532.5:c.478+118_478+134del	ENSP00000440946.1:n.478+118_478+134del
ENST00000537820.1:c.478+118_478+134del	ENSP00000441818.1:n.478+118_478+134del
ENST00000539235.5:c.219-2373_219-2357del	ENSP00000446464.1:n.219-2373_219-2357del
NM_000022.2:c.478+118_478+134del , LRG_16t1:c.478+118_478+134del	NP_000013.2:n.478+118_478+134del
XM_005260236.2:c.478+118_478+134del	XP_005260293.1:n.478+118_478+134del
XM_011528478.1:c.73+1005_73+1021del	XP_011526780.1:n.73+1005_73+1021del
XM_011528479.1:c.73+1005_73+1021del	XP_011526781.1:n.73+1005_73+1021del
XR_244129.1:n.532+118_532+134del
NM_000022.3:c.478+118_478+134del	NP_000013.2:n.478+118_478+134del
NM_001322050.1:c.73+1005_73+1021del	NP_001308979.1:n.73+1005_73+1021del
NM_001322051.1:c.478+118_478+134del	NP_001308980.1:n.478+118_478+134del
NR_136160.1:n.629+118_629+134del
NM_000022.4:c.478+118_478+134del MANE Select	NP_000013.2:n.478+118_478+134del
NM_001322050.2:c.73+1005_73+1021del	NP_001308979.1:n.73+1005_73+1021del
NM_001322051.2:c.478+118_478+134del	NP_001308980.1:n.478+118_478+134del
NR_136160.2:n.570+118_570+134del