Canonical Allele Identifier: CA2652992427

Gene: ADA

Linked Data

• gnomAD v4: 20-44651694-GCCAGCGGTGGCCGCGGCCGGCCAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651695_44651718del , CM000682.2:g.44651695_44651718del	GRCh38
NC_000020.10:g.43280336_43280359del , CM000682.1:g.43280336_43280359del	GRCh37
NC_000020.9:g.42713750_42713773del	NCBI36
NG_007385.1:g.5018_5041del , LRG_16:g.5018_5041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-121+184_-121+207del	ENSP00000512234.1:n.-121+184_-121+207del
ENST00000537820.2:c.-111_-88del	ENSP00000441818.1:n.-111_-88del
ENST00000695949.1:c.-111_-88del	ENSP00000512281.1:n.-111_-88del
ENST00000696006.1:c.-111_-88del	ENSP00000512325.1:n.-111_-88del
ENST00000696009.1:n.1_24del
ENST00000696010.1:n.3_26del
ENST00000696039.1:n.321+184_321+207del
ENST00000696059.1:c.-111_-88del	ENSP00000512362.1:n.-111_-88del
ENST00000696060.1:c.-111_-88del	ENSP00000512363.1:n.-111_-88del
ENST00000696061.1:c.-111_-88del	ENSP00000512364.1:n.-111_-88del
ENST00000696062.1:c.96+382_96+405del	ENSP00000512365.1:n.96+382_96+405del
ENST00000696064.1:c.-118+184_-118+207del	ENSP00000512367.1:n.-118+184_-118+207del
ENST00000696065.1:c.-121+184_-121+207del	ENSP00000512368.1:n.-121+184_-121+207del
ENST00000696077.1:c.-111_-88del	ENSP00000512376.1:n.-111_-88del
ENST00000696078.1:c.-111_-88del	ENSP00000512377.1:n.-111_-88del
ENST00000372874.8:c.-111_-88del	ENSP00000361965.4:n.-111_-88del
ENST00000535573.1:n.332+184_332+207del
ENST00000536076.1:n.213+184_213+207del
NM_000022.2:c.-111_-88del , LRG_16t1:c.-111_-88del	NP_000013.2:n.-111_-88del
XM_011528479.1:c.-257+184_-257+207del	XP_011526781.1:n.-257+184_-257+207del
NM_000022.3:c.-111_-88del	NP_000013.2:n.-111_-88del
NM_001322050.1:c.-400_-377del	NP_001308979.1:n.-400_-377del
NM_001322051.1:c.-111_-88del	NP_001308980.1:n.-111_-88del
NR_136160.1:n.41_64del