Canonical Allele Identifier: CA635982704

Gene: ADA

Linked Data

• dbSNP Id: rs1568851131
• gnomAD v2: 20-43264581-TCATGCACGTATGTGGGTGGGTGGGGAGAGCAGGCTCAGGCCTGGCTCACCTGACA-T
• gnomAD v3: 20-44635940-TCATGCACGTATGTGGGTGGGTGGGGAGAGCAGGCTCAGGCCTGGCTCACCTGACA-T
• gnomAD v4: 20-44635940-TCATGCACGTATGTGGGTGGGTGGGGAGAGCAGGCTCAGGCCTGGCTCACCTGACA-T
• MyVariant Identifiers: chr20:g.43264582_43264636del (hg19) ; chr20:g.44635941_44635995del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44635942_44635996del , CM000682.2:g.44635942_44635996del	GRCh38
NC_000020.10:g.43264583_43264637del , CM000682.1:g.43264583_43264637del	GRCh37
NC_000020.9:g.42697997_42698051del	NCBI36
NG_007385.1:g.20741_20795del , LRG_16:g.20741_20795del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.186+232_186+286del
ENST00000536076.2:c.-59+232_-59+286del	ENSP00000512234.1:n.-59+232_-59+286del
ENST00000536532.6:c.95+232_95+286del	ENSP00000440946.1:n.95+232_95+286del
ENST00000537820.2:c.95+232_95+286del	ENSP00000441818.1:n.95+232_95+286del
ENST00000539235.6:c.95+232_95+286del	ENSP00000446464.1:n.95+232_95+286del
ENST00000695889.1:c.95+232_95+286del	ENSP00000512240.1:n.95+232_95+286del
ENST00000695891.1:c.95+232_95+286del	ENSP00000512241.1:n.95+232_95+286del
ENST00000695927.1:c.173+232_173+286del	ENSP00000512270.1:n.173+232_173+286del
ENST00000695949.1:c.95+232_95+286del	ENSP00000512281.1:n.95+232_95+286del
ENST00000695957.1:c.95+232_95+286del	ENSP00000512286.1:n.95+232_95+286del
ENST00000695991.1:c.95+232_95+286del	ENSP00000512314.1:n.95+232_95+286del
ENST00000695992.1:c.95+232_95+286del	ENSP00000512315.1:n.95+232_95+286del
ENST00000695993.1:c.95+232_95+286del	ENSP00000512316.1:n.95+232_95+286del
ENST00000695994.1:c.95+232_95+286del	ENSP00000512317.1:n.95+232_95+286del
ENST00000695995.1:c.95+232_95+286del	ENSP00000512318.1:n.95+232_95+286del
ENST00000695996.1:n.166+232_166+286del
ENST00000695997.1:n.166+232_166+286del
ENST00000696003.1:n.187+232_187+286del
ENST00000696004.1:n.187+232_187+286del
ENST00000696006.1:c.95+232_95+286del	ENSP00000512325.1:n.95+232_95+286del
ENST00000696007.1:c.62+232_62+286del	ENSP00000512326.1:n.62+232_62+286del
ENST00000696009.1:n.206+232_206+286del
ENST00000696010.1:n.208+232_208+286del
ENST00000696017.1:c.95+232_95+286del	ENSP00000512333.1:n.95+232_95+286del
ENST00000696034.1:c.95+232_95+286del	ENSP00000512343.1:n.95+232_95+286del
ENST00000696038.1:c.95+232_95+286del	ENSP00000512344.1:n.95+232_95+286del
ENST00000696039.1:n.383+232_383+286del
ENST00000696058.1:c.95+232_95+286del	ENSP00000512361.1:n.95+232_95+286del
ENST00000696059.1:c.*40+232_*40+286del	ENSP00000512362.1:n.*40+232_*40+286del
ENST00000696060.1:c.95+232_95+286del	ENSP00000512363.1:n.95+232_95+286del
ENST00000696061.1:c.95+232_95+286del	ENSP00000512364.1:n.95+232_95+286del
ENST00000696062.1:c.158+232_158+286del	ENSP00000512365.1:n.158+232_158+286del
ENST00000696063.1:c.170+232_170+286del	ENSP00000512366.1:n.170+232_170+286del
ENST00000696064.1:c.-56+232_-56+286del	ENSP00000512367.1:n.-56+232_-56+286del
ENST00000696065.1:c.-59+232_-59+286del	ENSP00000512368.1:n.-59+232_-59+286del
ENST00000696075.1:c.*60_*65+49del
ENST00000696076.1:c.95+232_95+286del	ENSP00000512375.1:n.95+232_95+286del
ENST00000696077.1:c.95+232_95+286del	ENSP00000512376.1:n.95+232_95+286del
ENST00000696078.1:c.95+232_95+286del	ENSP00000512377.1:n.95+232_95+286del
ENST00000696079.1:c.95+232_95+286del	ENSP00000512378.1:n.95+232_95+286del
ENST00000696080.1:c.95+232_95+286del	ENSP00000512379.1:n.95+232_95+286del
ENST00000696082.1:c.173+232_173+286del	ENSP00000512380.1:n.173+232_173+286del
ENST00000696084.1:n.196+232_196+286del
ENST00000696104.1:c.95+232_95+286del	ENSP00000512399.1:n.95+232_95+286del
ENST00000696105.1:c.95+232_95+286del	ENSP00000512400.1:n.95+232_95+286del
ENST00000372874.9:c.95+232_95+286del MANE Select	ENSP00000361965.4:n.95+232_95+286del
ENST00000372874.8:c.95+232_95+286del	ENSP00000361965.4:n.95+232_95+286del
ENST00000492931.5:n.179+232_179+286del
ENST00000536076.1:n.275+232_275+286del
ENST00000536532.5:c.95+232_95+286del	ENSP00000440946.1:n.95+232_95+286del
ENST00000537820.1:c.95+232_95+286del	ENSP00000441818.1:n.95+232_95+286del
ENST00000539235.5:c.95+232_95+286del	ENSP00000446464.1:n.95+232_95+286del
ENST00000545776.5:n.149+232_149+286del
NM_000022.2:c.95+232_95+286del , LRG_16t1:c.95+232_95+286del	NP_000013.2:n.95+232_95+286del
XM_005260236.2:c.95+232_95+286del	XP_005260293.1:n.95+232_95+286del
XM_011528478.1:c.-195+232_-195+286del	XP_011526780.1:n.-195+232_-195+286del
XM_011528479.1:c.-195+232_-195+286del	XP_011526781.1:n.-195+232_-195+286del
XR_244129.1:n.149+232_149+286del
NM_000022.3:c.95+232_95+286del	NP_000013.2:n.95+232_95+286del
NM_001322050.1:c.-195+232_-195+286del	NP_001308979.1:n.-195+232_-195+286del
NM_001322051.1:c.95+232_95+286del	NP_001308980.1:n.95+232_95+286del
NR_136160.1:n.246+232_246+286del
NM_000022.4:c.95+232_95+286del MANE Select	NP_000013.2:n.95+232_95+286del
NM_001322050.2:c.-195+232_-195+286del	NP_001308979.1:n.-195+232_-195+286del
NM_001322051.2:c.95+232_95+286del	NP_001308980.1:n.95+232_95+286del
NR_136160.2:n.187+232_187+286del