Canonical Allele Identifier: CA2652992413

Gene: ADA

Linked Data

• gnomAD v4: 20-44651688-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651689_44651690del , CM000682.2:g.44651689_44651690del	GRCh38
NC_000020.10:g.43280330_43280331del , CM000682.1:g.43280330_43280331del	GRCh37
NC_000020.9:g.42713744_42713745del	NCBI36
NG_007385.1:g.5046_5047del , LRG_16:g.5046_5047del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.9_10del
ENST00000536076.2:c.-121+212_-121+213del	ENSP00000512234.1:n.-121+212_-121+213del
ENST00000536532.6:c.-83_-82del	ENSP00000440946.1:n.-83_-82del
ENST00000537820.2:c.-83_-82del	ENSP00000441818.1:n.-83_-82del
ENST00000539235.6:c.-83_-82del	ENSP00000446464.1:n.-83_-82del
ENST00000695889.1:c.-83_-82del	ENSP00000512240.1:n.-83_-82del
ENST00000695949.1:c.-83_-82del	ENSP00000512281.1:n.-83_-82del
ENST00000695957.1:c.-83_-82del	ENSP00000512286.1:n.-83_-82del
ENST00000695993.1:c.-83_-82del	ENSP00000512316.1:n.-83_-82del
ENST00000696003.1:n.10_11del
ENST00000696004.1:n.10_11del
ENST00000696006.1:c.-83_-82del	ENSP00000512325.1:n.-83_-82del
ENST00000696009.1:n.29_30del
ENST00000696010.1:n.31_32del
ENST00000696034.1:c.-83_-82del	ENSP00000512343.1:n.-83_-82del
ENST00000696038.1:c.-83_-82del	ENSP00000512344.1:n.-83_-82del
ENST00000696039.1:n.321+212_321+213del
ENST00000696059.1:c.-83_-82del	ENSP00000512362.1:n.-83_-82del
ENST00000696060.1:c.-83_-82del	ENSP00000512363.1:n.-83_-82del
ENST00000696061.1:c.-83_-82del	ENSP00000512364.1:n.-83_-82del
ENST00000696062.1:c.96+410_96+411del	ENSP00000512365.1:n.96+410_96+411del
ENST00000696064.1:c.-118+212_-118+213del	ENSP00000512367.1:n.-118+212_-118+213del
ENST00000696065.1:c.-121+212_-121+213del	ENSP00000512368.1:n.-121+212_-121+213del
ENST00000696075.1:c.-83_-82del	ENSP00000512374.1:n.-83_-82del
ENST00000696076.1:c.-83_-82del	ENSP00000512375.1:n.-83_-82del
ENST00000696077.1:c.-83_-82del	ENSP00000512376.1:n.-83_-82del
ENST00000696078.1:c.-83_-82del	ENSP00000512377.1:n.-83_-82del
ENST00000696080.1:c.-83_-82del	ENSP00000512379.1:n.-83_-82del
ENST00000696084.1:n.19_20del
ENST00000696104.1:c.-83_-82del	ENSP00000512399.1:n.-83_-82del
ENST00000696105.1:c.-83_-82del	ENSP00000512400.1:n.-83_-82del
ENST00000372874.9:c.-83_-82del MANE Select	ENSP00000361965.4:n.-83_-82del
ENST00000372874.8:c.-83_-82del	ENSP00000361965.4:n.-83_-82del
ENST00000492931.5:n.2_3del
ENST00000535573.1:n.332+212_332+213del
ENST00000536076.1:n.213+212_213+213del
ENST00000537820.1:c.-83_-82del	ENSP00000441818.1:n.-83_-82del
ENST00000539235.5:c.-83_-82del	ENSP00000446464.1:n.-83_-82del
NM_000022.2:c.-83_-82del , LRG_16t1:c.-83_-82del	NP_000013.2:n.-83_-82del
XM_011528479.1:c.-257+212_-257+213del	XP_011526781.1:n.-257+212_-257+213del
NM_000022.3:c.-83_-82del	NP_000013.2:n.-83_-82del
NM_001322050.1:c.-372_-371del	NP_001308979.1:n.-372_-371del
NM_001322051.1:c.-83_-82del	NP_001308980.1:n.-83_-82del
NR_136160.1:n.69_70del
NM_000022.4:c.-83_-82del MANE Select	NP_000013.2:n.-83_-82del
NM_001322050.2:c.-372_-371del	NP_001308979.1:n.-372_-371del
NM_001322051.2:c.-83_-82del	NP_001308980.1:n.-83_-82del
NR_136160.2:n.10_11del