Canonical Allele Identifier: CA1017848979

Gene: ADA

Linked Data

• dbSNP Id: rs2065650161
• gnomAD v3: 20-44651784-TCGCCGGAGCCCCCGCCCCGCC-T
• gnomAD v4: 20-44651784-TCGCCGGAGCCCCCGCCCCGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651791_44651811del , CM000682.2:g.44651791_44651811del	GRCh38
NC_000020.10:g.43280432_43280452del , CM000682.1:g.43280432_43280452del	GRCh37
NC_000020.9:g.42713846_42713866del	NCBI36
NG_007385.1:g.4931_4951del , LRG_16:g.4931_4951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-121+97_-121+117del	ENSP00000512234.1:n.-121+97_-121+117del
ENST00000696039.1:n.321+97_321+117del
ENST00000696062.1:c.96+295_96+315del	ENSP00000512365.1:n.96+295_96+315del
ENST00000696064.1:c.-118+97_-118+117del	ENSP00000512367.1:n.-118+97_-118+117del
ENST00000696065.1:c.-121+97_-121+117del	ENSP00000512368.1:n.-121+97_-121+117del
ENST00000535573.1:n.332+97_332+117del
ENST00000536076.1:n.213+97_213+117del
XM_011528479.1:c.-257+97_-257+117del	XP_011526781.1:n.-257+97_-257+117del