Canonical Allele Identifier: CA2365869048
Gene: ADA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44651759_44651760delinsGC , CM000682.2:g.44651759_44651760delinsGC GRCh38
NC_000020.10:g.43280400_43280401delinsGC , CM000682.1:g.43280400_43280401delinsGC GRCh37
NC_000020.9:g.42713814_42713815delinsGC NCBI36
NG_007385.1:g.4976_4977delinsGC , LRG_16:g.4976_4977delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000536076.2:c.-121+142_-121+143delinsGC ENSP00000512234.1:n.-121+142_-121+143delinsGC
ENST00000696039.1:n.321+142_321+143delinsGC
ENST00000696062.1:c.96+340_96+341delinsGC ENSP00000512365.1:n.96+340_96+341delinsGC
ENST00000696064.1:c.-118+142_-118+143delinsGC ENSP00000512367.1:n.-118+142_-118+143delinsGC
ENST00000696065.1:c.-121+142_-121+143delinsGC ENSP00000512368.1:n.-121+142_-121+143delinsGC
ENST00000535573.1:n.332+142_332+143delinsGC
ENST00000536076.1:n.213+142_213+143delinsGC
XM_011528479.1:c.-257+142_-257+143delinsGC XP_011526781.1:n.-257+142_-257+143delinsGC