Canonical Allele Identifier: CA2573048995

Gene: ADA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651588_44651608del , CM000682.2:g.44651588_44651608del	GRCh38
NC_000020.10:g.43280229_43280249del , CM000682.1:g.43280229_43280249del	GRCh37
NC_000020.9:g.42713643_42713663del	NCBI36
NG_007385.1:g.5129_5149del , LRG_16:g.5129_5149del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.92_112del
ENST00000536076.2:c.-121+295_-121+315del	ENSP00000512234.1:n.-121+295_-121+315del
ENST00000536532.6:c.1_21del	ENSP00000440946.1:p.Met1_Phe7del
ENST00000537820.2:c.1_21del	ENSP00000441818.1:p.Met1_Phe7del
ENST00000539235.6:c.1_21del	ENSP00000446464.1:p.Met1_Phe7del
ENST00000695889.1:c.1_21del	ENSP00000512240.1:p.Met1_Phe7del
ENST00000695949.1:c.1_21del	ENSP00000512281.1:p.Met1_Phe7del
ENST00000695957.1:c.1_21del	ENSP00000512286.1:p.Met1_Phe7del
ENST00000695991.1:c.1_21del	ENSP00000512314.1:p.Met1_Phe7del
ENST00000695992.1:c.1_21del	ENSP00000512315.1:p.Met1_Phe7del
ENST00000695993.1:c.1_21del	ENSP00000512316.1:p.Met1_Phe7del
ENST00000695994.1:c.1_21del	ENSP00000512317.1:p.Met1_Phe7del
ENST00000695995.1:c.1_21del	ENSP00000512318.1:p.Met1_Phe7del
ENST00000695996.1:n.72_92del
ENST00000695997.1:n.72_92del
ENST00000696003.1:n.93_113del
ENST00000696004.1:n.93_113del
ENST00000696006.1:c.1_21del	ENSP00000512325.1:p.Met1_Phe7del
ENST00000696009.1:n.112_132del
ENST00000696010.1:n.114_134del
ENST00000696017.1:c.1_21del	ENSP00000512333.1:p.Met1_Phe7del
ENST00000696034.1:c.1_21del	ENSP00000512343.1:p.Met1_Phe7del
ENST00000696038.1:c.1_21del	ENSP00000512344.1:p.Met1_Phe7del
ENST00000696039.1:n.321+295_321+315del
ENST00000696058.1:c.1_21del	ENSP00000512361.1:p.Met1_Phe7del
ENST00000696059.1:c.1_21del	ENSP00000512362.1:p.Met1_Phe7del
ENST00000696060.1:c.1_21del	ENSP00000512363.1:p.Met1_Phe7del
ENST00000696061.1:c.1_21del	ENSP00000512364.1:p.Met1_Phe7del
ENST00000696062.1:c.96+493_96+513del	ENSP00000512365.1:n.96+493_96+513del
ENST00000696063.1:c.1_21del	ENSP00000512366.1:p.Met1_Phe7del
ENST00000696064.1:c.-118+295_-118+315del	ENSP00000512367.1:n.-118+295_-118+315del
ENST00000696065.1:c.-121+295_-121+315del	ENSP00000512368.1:n.-121+295_-121+315del
ENST00000696075.1:c.1_21del	ENSP00000512374.1:p.Met1_Phe7del
ENST00000696076.1:c.1_21del	ENSP00000512375.1:p.Met1_Phe7del
ENST00000696077.1:c.1_21del	ENSP00000512376.1:p.Met1_Phe7del
ENST00000696078.1:c.1_21del	ENSP00000512377.1:p.Met1_Phe7del
ENST00000696079.1:c.1_21del	ENSP00000512378.1:p.Met1_Phe7del
ENST00000696080.1:c.1_21del	ENSP00000512379.1:p.Met1_Phe7del
ENST00000696084.1:n.102_122del
ENST00000696104.1:c.1_21del	ENSP00000512399.1:p.Met1_Phe7del
ENST00000696105.1:c.1_21del	ENSP00000512400.1:p.Met1_Phe7del
ENST00000372874.9:c.1_21del MANE Select	ENSP00000361965.4:p.Met1_Phe7del
ENST00000372874.8:c.1_21del	ENSP00000361965.4:p.Met1_Phe7del
ENST00000492931.5:n.85_105del
ENST00000535573.1:n.332+295_332+315del
ENST00000536076.1:n.213+295_213+315del
ENST00000536532.5:c.1_21del	ENSP00000440946.1:p.Met1_Phe7del
ENST00000537820.1:c.1_21del	ENSP00000441818.1:p.Met1_Phe7del
ENST00000539235.5:c.1_21del	ENSP00000446464.1:p.Met1_Phe7del
ENST00000545776.5:n.55_75del
NM_000022.2:c.1_21del , LRG_16t1:c.1_21del	NP_000013.2:p.Met1_Phe7del
XM_005260236.2:c.1_21del	XP_005260293.1:p.Met1_Phe7del
XM_011528478.1:c.-289_-269del	XP_011526780.1:n.-289_-269del
XM_011528479.1:c.-257+295_-257+315del	XP_011526781.1:n.-257+295_-257+315del
XR_244129.1:n.55_75del
NM_000022.3:c.1_21del	NP_000013.2:p.Met1_Phe7del
NM_001322050.1:c.-289_-269del	NP_001308979.1:n.-289_-269del
NM_001322051.1:c.1_21del	NP_001308980.1:p.Met1_Phe7del
NR_136160.1:n.152_172del
NM_000022.4:c.1_21del MANE Select	NP_000013.2:p.Met1_Phe7del
NM_001322050.2:c.-289_-269del	NP_001308979.1:n.-289_-269del
NM_001322051.2:c.1_21del	NP_001308980.1:p.Met1_Phe7del
NR_136160.2:n.93_113del