Canonical Allele Identifier: CA2652992665

Gene: ADA

Linked Data

• gnomAD v4: 20-44651905-T-TAGGAGAAGAGAGAGGAAGAGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651905_44651906insAGGAGAAGAGAGAGGAAGAGGA , CM000682.2:g.44651905_44651906insAGGAGAAGAGAGAGGAAGAGGA	GRCh38
NC_000020.10:g.43280546_43280547insAGGAGAAGAGAGAGGAAGAGGA , CM000682.1:g.43280546_43280547insAGGAGAAGAGAGAGGAAGAGGA	GRCh37
NC_000020.9:g.42713960_42713961insAGGAGAAGAGAGAGGAAGAGGA	NCBI36
NG_007385.1:g.4830_4831insTCCTCTTCCTCTCTCTTCTCCT , LRG_16:g.4830_4831insTCCTCTTCCTCTCTCTTCTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-125_-124insTCCTCTTCCTCTCTCTTCTCCT	ENSP00000512234.1:n.-125_-124insTCCTCTTCCTCTCTCTTCTCCT
ENST00000696039.1:n.317_318insTCCTCTTCCTCTCTCTTCTCCT
ENST00000696062.1:c.96+194_96+195insTCCTCTTCCTCTCTCTTCTCCT	ENSP00000512365.1:n.96+194_96+195insTCCTCTTCCTCTCTCTTCTCCT
ENST00000696064.1:c.-122_-121insTCCTCTTCCTCTCTCTTCTCCT	ENSP00000512367.1:n.-122_-121insTCCTCTTCCTCTCTCTTCTCCT
ENST00000696065.1:c.-125_-124insTCCTCTTCCTCTCTCTTCTCCT	ENSP00000512368.1:n.-125_-124insTCCTCTTCCTCTCTCTTCTCCT
ENST00000535573.1:n.328_329insTCCTCTTCCTCTCTCTTCTCCT
ENST00000536076.1:n.209_210insTCCTCTTCCTCTCTCTTCTCCT
XM_011528479.1:c.-261_-260insTCCTCTTCCTCTCTCTTCTCCT	XP_011526781.1:n.-261_-260insTCCTCTTCCTCTCTCTTCTCCT