Canonical Allele Identifier: CA315436267

Gene: ADA PKIG

Linked Data

• dbSNP Id: rs899390921
• gnomAD v3: 20-44623338-ATGAAGGAC-A
• gnomAD v4: 20-44623338-ATGAAGGAC-A
• MyVariant Identifiers: chr20:g.43251980_43251987del (hg19) ; chr20:g.44623339_44623346del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44623344_44623351del , CM000682.2:g.44623344_44623351del	GRCh38
NC_000020.10:g.43251985_43251992del , CM000682.1:g.43251985_43251992del	GRCh37
NC_000020.9:g.42685399_42685406del	NCBI36
NG_007385.1:g.33390_33397del , LRG_16:g.33390_33397del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.698-268_698-261del (ADA)
ENST00000536076.2:c.454-268_454-261del (ADA)	ENSP00000512234.1:n.454-268_454-261del
ENST00000536532.6:c.607-268_607-261del (ADA)	ENSP00000440946.1:n.607-268_607-261del
ENST00000537820.2:c.607-416_607-409del (ADA)	ENSP00000441818.1:n.607-416_607-409del
ENST00000539235.6:c.219-268_219-261del (ADA)	ENSP00000446464.1:n.219-268_219-261del
ENST00000695889.1:c.219-416_219-409del (ADA)	ENSP00000512240.1:n.219-416_219-409del
ENST00000695890.1:n.2410-268_2410-261del (ADA)
ENST00000695891.1:c.219-416_219-409del (ADA)	ENSP00000512241.1:n.219-416_219-409del
ENST00000695927.1:c.685-268_685-261del (ADA)	ENSP00000512270.1:n.685-268_685-261del
ENST00000695949.1:c.604-416_604-409del (ADA)	ENSP00000512281.1:n.604-416_604-409del
ENST00000695957.1:c.*98-268_*98-261del (ADA)	ENSP00000512286.1:n.*98-268_*98-261del
ENST00000695991.1:c.217-416_217-409del (ADA)	ENSP00000512314.1:n.217-416_217-409del
ENST00000695992.1:c.607-268_607-261del (ADA)	ENSP00000512315.1:n.607-268_607-261del
ENST00000695993.1:c.607-268_607-261del (ADA)	ENSP00000512316.1:n.607-268_607-261del
ENST00000695994.1:c.607-268_607-261del (ADA)	ENSP00000512317.1:n.607-268_607-261del
ENST00000695995.1:c.217-268_217-261del (ADA)	ENSP00000512318.1:n.217-268_217-261del
ENST00000695996.1:n.678-268_678-261del (ADA)
ENST00000696003.1:n.699-268_699-261del (ADA)
ENST00000696004.1:n.699-268_699-261del (ADA)
ENST00000696005.1:c.129-416_129-409del (ADA)
ENST00000696006.1:c.607-416_607-409del (ADA)	ENSP00000512325.1:n.607-416_607-409del
ENST00000696007.1:c.458-268_458-261del (ADA)	ENSP00000512326.1:n.458-268_458-261del
ENST00000696008.1:n.2617_2624del (ADA)
ENST00000696017.1:c.604-268_604-261del (ADA)	ENSP00000512333.1:n.604-268_604-261del
ENST00000696034.1:c.607-268_607-261del (ADA)	ENSP00000512343.1:n.607-268_607-261del
ENST00000696035.1:n.717-268_717-261del (ADA)
ENST00000696036.1:n.1297-268_1297-261del (ADA)
ENST00000696037.1:n.2284-268_2284-261del (ADA)
ENST00000696038.1:c.*353-268_*353-261del (ADA)	ENSP00000512344.1:n.*353-268_*353-261del
ENST00000696039.1:n.895-268_895-261del (ADA)
ENST00000696058.1:c.607-271_607-264del (ADA)	ENSP00000512361.1:n.607-271_607-264del
ENST00000696059.1:c.*552-268_*552-261del (ADA)	ENSP00000512362.1:n.*552-268_*552-261del
ENST00000696060.1:c.607-199_607-192del (ADA)	ENSP00000512363.1:n.607-199_607-192del
ENST00000696061.1:c.604-268_604-261del (ADA)	ENSP00000512364.1:n.604-268_604-261del
ENST00000696062.1:c.670-268_670-261del (ADA)	ENSP00000512365.1:n.670-268_670-261del
ENST00000696063.1:c.682-268_682-261del (ADA)	ENSP00000512366.1:n.682-268_682-261del
ENST00000696064.1:c.454-268_454-261del (ADA)	ENSP00000512367.1:n.454-268_454-261del
ENST00000696065.1:c.66-416_66-409del (ADA)	ENSP00000512368.1:n.66-416_66-409del
ENST00000696073.1:n.574_581del (ADA)
ENST00000696074.1:n.223-268_223-261del (ADA)
ENST00000696075.1:c.*577-268_*577-261del (ADA)	ENSP00000512374.1:n.*577-268_*577-261del
ENST00000696076.1:c.607-199_607-192del (ADA)	ENSP00000512375.1:n.607-199_607-192del
ENST00000696077.1:c.604-271_604-264del (ADA)	ENSP00000512376.1:n.604-271_604-264del
ENST00000696078.1:c.607-271_607-264del (ADA)	ENSP00000512377.1:n.607-271_607-264del
ENST00000696079.1:c.607-271_607-264del (ADA)	ENSP00000512378.1:n.607-271_607-264del
ENST00000696080.1:c.607-268_607-261del (ADA)	ENSP00000512379.1:n.607-268_607-261del
ENST00000696081.1:n.726-268_726-261del (ADA)
ENST00000696082.1:c.685-271_685-264del (ADA)	ENSP00000512380.1:n.685-271_685-264del
ENST00000696083.1:n.1488-268_1488-261del (ADA)
ENST00000696084.1:n.708-268_708-261del (ADA)
ENST00000696104.1:c.363-416_363-409del (ADA)	ENSP00000512399.1:n.363-416_363-409del
ENST00000696105.1:c.*148-268_*148-261del (ADA)	ENSP00000512400.1:n.*148-268_*148-261del
ENST00000372874.9:c.607-268_607-261del (ADA) MANE Select	ENSP00000361965.4:n.607-268_607-261del
ENST00000372874.8:c.607-268_607-261del (ADA)	ENSP00000361965.4:n.607-268_607-261del
ENST00000372887.5:c.152-589_152-582del (PKIG)	ENSP00000361978.1:n.152-589_152-582del
ENST00000464097.5:n.281-268_281-261del (ADA)
ENST00000492931.5:n.691-268_691-261del (ADA)
ENST00000536532.5:c.607-268_607-261del (ADA)	ENSP00000440946.1:n.607-268_607-261del
ENST00000537820.1:c.607-416_607-409del (ADA)	ENSP00000441818.1:n.607-416_607-409del
ENST00000539235.5:c.219-268_219-261del (ADA)	ENSP00000446464.1:n.219-268_219-261del
NM_000022.2:c.607-268_607-261del , LRG_16t1:c.607-268_607-261del (ADA)	NP_000013.2:n.607-268_607-261del
XM_005260236.2:c.607-416_607-409del (ADA)	XP_005260293.1:n.607-416_607-409del
XM_011528478.1:c.202-268_202-261del (ADA)	XP_011526780.1:n.202-268_202-261del
XM_011528479.1:c.202-268_202-261del (ADA)	XP_011526781.1:n.202-268_202-261del
XR_244129.1:n.661-268_661-261del (ADA)
NM_000022.3:c.607-268_607-261del (ADA)	NP_000013.2:n.607-268_607-261del
NM_001322050.1:c.202-268_202-261del (ADA)	NP_001308979.1:n.202-268_202-261del
NM_001322051.1:c.607-416_607-409del (ADA)	NP_001308980.1:n.607-416_607-409del
NR_136160.1:n.758-268_758-261del (ADA)
NM_000022.4:c.607-268_607-261del (ADA) MANE Select	NP_000013.2:n.607-268_607-261del
NM_001322050.2:c.202-268_202-261del (ADA)	NP_001308979.1:n.202-268_202-261del
NM_001322051.2:c.607-416_607-409del (ADA)	NP_001308980.1:n.607-416_607-409del
NR_136160.2:n.699-268_699-261del (ADA)