Canonical Allele Identifier: CA2365869173

Gene: ADA

Linked Data

• dbSNP Id: rs2065652177
• gnomAD v4: 20-44651942-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651948dup , CM000682.2:g.44651948dup	GRCh38
NC_000020.10:g.43280589dup , CM000682.1:g.43280589dup	GRCh37
NC_000020.9:g.42714003dup	NCBI36
NG_007385.1:g.4793dup , LRG_16:g.4793dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-162dup	ENSP00000512234.1:n.-162dup
ENST00000696039.1:n.280dup
ENST00000696062.1:c.96+157dup	ENSP00000512365.1:n.96+157dup
ENST00000696064.1:c.-159dup	ENSP00000512367.1:n.-159dup
ENST00000535573.1:n.291dup
ENST00000536076.1:n.172dup
XM_011528479.1:c.-298dup	XP_011526781.1:n.-298dup