Canonical Allele Identifier: CA2365869200
Gene: ADA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44651985_44651987delinsCTG , CM000682.2:g.44651985_44651987delinsCTG GRCh38
NC_000020.10:g.43280626_43280628delinsCTG , CM000682.1:g.43280626_43280628delinsCTG GRCh37
NC_000020.9:g.42714040_42714042delinsCTG NCBI36
NG_007385.1:g.4749_4751delinsCAG , LRG_16:g.4749_4751delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000536076.2:c.-206_-204delinsCAG ENSP00000512234.1:n.-206_-204delinsCAG
ENST00000696039.1:n.236_238delinsCAG
ENST00000696062.1:c.96+113_96+115delinsCAG ENSP00000512365.1:n.96+113_96+115delinsCAG
ENST00000696064.1:c.-203_-201delinsCAG ENSP00000512367.1:n.-203_-201delinsCAG
ENST00000535573.1:n.247_249delinsCAG
ENST00000536076.1:n.128_130delinsCAG
XM_011528479.1:c.-342_-340delinsCAG XP_011526781.1:n.-342_-340delinsCAG