Canonical Allele Identifier: CA1017848951

Gene: ADA

Linked Data

• gnomAD v3: 20-44651746-TCCCGCCCCGCCCGCCGCCGTTCCCGGGGCCCGCCCTCTCGCCGGAGCC-T
• gnomAD v4: 20-44651746-TCCCGCCCCGCCCGCCGCCGTTCCCGGGGCCCGCCCTCTCGCCGGAGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651763_44651810del , CM000682.2:g.44651763_44651810del	GRCh38
NC_000020.10:g.43280404_43280451del , CM000682.1:g.43280404_43280451del	GRCh37
NC_000020.9:g.42713818_42713865del	NCBI36
NG_007385.1:g.4942_4989del , LRG_16:g.4942_4989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-121+108_-121+155del	ENSP00000512234.1:n.-121+108_-121+155del
ENST00000696039.1:n.321+108_321+155del
ENST00000696062.1:c.96+306_96+353del	ENSP00000512365.1:n.96+306_96+353del
ENST00000696064.1:c.-118+108_-118+155del	ENSP00000512367.1:n.-118+108_-118+155del
ENST00000696065.1:c.-121+108_-121+155del	ENSP00000512368.1:n.-121+108_-121+155del
ENST00000535573.1:n.332+108_332+155del
ENST00000536076.1:n.213+108_213+155del
XM_011528479.1:c.-257+108_-257+155del	XP_011526781.1:n.-257+108_-257+155del