Canonical Allele Identifier: CA2652992653

Gene: ADA

Linked Data

• gnomAD v4: 20-44651892-C-CCGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651894_44651897dup , CM000682.2:g.44651894_44651897dup	GRCh38
NC_000020.10:g.43280535_43280538dup , CM000682.1:g.43280535_43280538dup	GRCh37
NC_000020.9:g.42713949_42713952dup	NCBI36
NG_007385.1:g.4840_4843dup , LRG_16:g.4840_4843dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-121+6_-121+9dup	ENSP00000512234.1:n.-121+6_-121+9dup
ENST00000696039.1:n.321+6_321+9dup
ENST00000696062.1:c.96+204_96+207dup	ENSP00000512365.1:n.96+204_96+207dup
ENST00000696064.1:c.-118+6_-118+9dup	ENSP00000512367.1:n.-118+6_-118+9dup
ENST00000696065.1:c.-121+6_-121+9dup	ENSP00000512368.1:n.-121+6_-121+9dup
ENST00000535573.1:n.332+6_332+9dup
ENST00000536076.1:n.213+6_213+9dup
XM_011528479.1:c.-257+6_-257+9dup	XP_011526781.1:n.-257+6_-257+9dup