Canonical Allele Identifier: CA9871559

Gene: ADA PKIG

Linked Data

• dbSNP Id: rs775691787
• ExAC: 20:43251602 G / GGAGGAGGCAGT
• gnomAD v2: 20-43251602-G-GGAGGAGGCAGT
• gnomAD v3: 20-44622961-G-GGAGGAGGCAGT
• gnomAD v4: 20-44622961-G-GGAGGAGGCAGT
• MyVariant Identifiers: chr20:g.43251602_43251603insGAGGAGGCAGT (hg19) ; chr20:g.44622961_44622962insGAGGAGGCAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44622969_44622979dup , CM000682.2:g.44622969_44622979dup	GRCh38
NC_000020.10:g.43251610_43251620dup , CM000682.1:g.43251610_43251620dup	GRCh37
NC_000020.9:g.42685024_42685034dup	NCBI36
NG_007385.1:g.33764_33774dup , LRG_16:g.33764_33774dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.804_814dup (ADA)
ENST00000536076.2:c.525+35_526-32dup (ADA)	ENSP00000512234.1:n.525+35_526-32dup
ENST00000536532.6:c.678+35_679-32dup (ADA)	ENSP00000440946.1:n.678+35_679-32dup
ENST00000537820.2:c.607-42_607-32dup (ADA)	ENSP00000441818.1:n.607-42_607-32dup
ENST00000539235.6:c.*62+35_*63-32dup (ADA)	ENSP00000446464.1:n.*62+35_*63-32dup
ENST00000695889.1:c.219-42_219-32dup (ADA)	ENSP00000512240.1:n.219-42_219-32dup
ENST00000695890.1:n.2516_2526dup (ADA)
ENST00000695891.1:c.219-42_219-32dup (ADA)	ENSP00000512241.1:n.219-42_219-32dup
ENST00000695927.1:c.756+35_757-32dup (ADA)	ENSP00000512270.1:n.756+35_757-32dup
ENST00000695949.1:c.604-42_604-32dup (ADA)	ENSP00000512281.1:n.604-42_604-32dup
ENST00000695957.1:c.*169+35_*170-32dup (ADA)	ENSP00000512286.1:n.*169+35_*170-32dup
ENST00000695991.1:c.217-42_217-32dup (ADA)	ENSP00000512314.1:n.217-42_217-32dup
ENST00000695992.1:c.678+35_679-32dup (ADA)	ENSP00000512315.1:n.678+35_679-32dup
ENST00000695993.1:c.678+35_679-32dup (ADA)	ENSP00000512316.1:n.678+35_679-32dup
ENST00000695994.1:c.652-42_652-32dup (ADA)	ENSP00000512317.1:n.652-42_652-32dup
ENST00000695995.1:c.288+35_289-32dup (ADA)	ENSP00000512318.1:n.288+35_289-32dup
ENST00000695996.1:n.784_794dup (ADA)
ENST00000696003.1:n.805_815dup (ADA)
ENST00000696004.1:n.805_815dup (ADA)
ENST00000696005.1:c.129-42_129-32dup (ADA)
ENST00000696006.1:c.607-42_607-32dup (ADA)	ENSP00000512325.1:n.607-42_607-32dup
ENST00000696007.1:c.564_574dup (ADA)	ENSP00000512326.1:n.564_574dup
ENST00000696008.1:n.2991_3001dup (ADA)
ENST00000696017.1:c.675+35_676-32dup (ADA)	ENSP00000512333.1:n.675+35_676-32dup
ENST00000696034.1:c.678+35_679-32dup (ADA)	ENSP00000512343.1:n.678+35_679-32dup
ENST00000696035.1:n.823_833dup (ADA)
ENST00000696036.1:n.1403_1413dup (ADA)
ENST00000696037.1:n.2355+35_2356-32dup (ADA)
ENST00000696038.1:c.*459_*469dup (ADA)	ENSP00000512344.1:n.*459_*469dup
ENST00000696039.1:n.1001_1011dup (ADA)
ENST00000696058.1:c.675+35_676-32dup (ADA)	ENSP00000512361.1:n.675+35_676-32dup
ENST00000696059.1:c.*623+35_*624-32dup (ADA)	ENSP00000512362.1:n.*623+35_*624-32dup
ENST00000696060.1:c.747+35_748-32dup (ADA)	ENSP00000512363.1:n.747+35_748-32dup
ENST00000696061.1:c.675+35_676-32dup (ADA)	ENSP00000512364.1:n.675+35_676-32dup
ENST00000696062.1:c.741+35_742-32dup (ADA)	ENSP00000512365.1:n.741+35_742-32dup
ENST00000696063.1:c.753+35_754-32dup (ADA)	ENSP00000512366.1:n.753+35_754-32dup
ENST00000696064.1:c.525+35_526-32dup (ADA)	ENSP00000512367.1:n.525+35_526-32dup
ENST00000696065.1:c.66-42_66-32dup (ADA)	ENSP00000512368.1:n.66-42_66-32dup
ENST00000696073.1:n.948_958dup (ADA)
ENST00000696074.1:n.294+35_295-32dup (ADA)
ENST00000696075.1:c.*648+35_*649-32dup (ADA)	ENSP00000512374.1:n.*648+35_*649-32dup
ENST00000696076.1:c.747+35_748-32dup (ADA)	ENSP00000512375.1:n.747+35_748-32dup
ENST00000696077.1:c.672+35_673-32dup (ADA)	ENSP00000512376.1:n.672+35_673-32dup
ENST00000696078.1:c.675+35_676-32dup (ADA)	ENSP00000512377.1:n.675+35_676-32dup
ENST00000696079.1:c.675+35_676-32dup (ADA)	ENSP00000512378.1:n.675+35_676-32dup
ENST00000696080.1:c.678+35_679-32dup (ADA)	ENSP00000512379.1:n.678+35_679-32dup
ENST00000696081.1:n.797+35_798-32dup (ADA)
ENST00000696082.1:c.753+35_754-32dup (ADA)	ENSP00000512380.1:n.753+35_754-32dup
ENST00000696083.1:n.1594_1604dup (ADA)
ENST00000696084.1:n.814_824dup (ADA)
ENST00000696104.1:c.363-42_363-32dup (ADA)	ENSP00000512399.1:n.363-42_363-32dup
ENST00000372874.9:c.678+35_679-32dup (ADA) MANE Select	ENSP00000361965.4:n.678+35_679-32dup
ENST00000372874.8:c.678+35_679-32dup (ADA)	ENSP00000361965.4:n.678+35_679-32dup
ENST00000372887.5:c.152-964_152-954dup (PKIG)	ENSP00000361978.1:n.152-964_152-954dup
ENST00000464097.5:n.387_397dup (ADA)
ENST00000492931.5:n.797_807dup (ADA)
ENST00000536532.5:c.678+35_679-32dup (ADA)	ENSP00000440946.1:n.678+35_679-32dup
ENST00000537820.1:c.607-42_607-32dup (ADA)	ENSP00000441818.1:n.607-42_607-32dup
ENST00000539235.5:c.*62+35_*63-32dup (ADA)	ENSP00000446464.1:n.*62+35_*63-32dup
NM_000022.2:c.678+35_679-32dup , LRG_16t1:c.678+35_679-32dup (ADA)	NP_000013.2:n.678+35_679-32dup
XM_005260236.2:c.607-42_607-32dup (ADA)	XP_005260293.1:n.607-42_607-32dup
XM_011528478.1:c.273+35_274-32dup (ADA)	XP_011526780.1:n.273+35_274-32dup
XM_011528479.1:c.273+35_274-32dup (ADA)	XP_011526781.1:n.273+35_274-32dup
XR_244129.1:n.732+35_733-32dup (ADA)
NM_000022.3:c.678+35_679-32dup (ADA)	NP_000013.2:n.678+35_679-32dup
NM_001322050.1:c.273+35_274-32dup (ADA)	NP_001308979.1:n.273+35_274-32dup
NM_001322051.1:c.607-42_607-32dup (ADA)	NP_001308980.1:n.607-42_607-32dup
NR_136160.1:n.829+35_830-32dup (ADA)
NM_000022.4:c.678+35_679-32dup (ADA) MANE Select	NP_000013.2:n.678+35_679-32dup
NM_001322050.2:c.273+35_274-32dup (ADA)	NP_001308979.1:n.273+35_274-32dup
NM_001322051.2:c.607-42_607-32dup (ADA)	NP_001308980.1:n.607-42_607-32dup
NR_136160.2:n.770+35_771-32dup (ADA)