Canonical Allele Identifier: CA10620612

Gene: AGA

Linked Data

• ClinVar Variation Id: 348240
• ClinVar RCV Id: RCV000327871
• dbSNP Id: rs886059265
• gnomAD v2: 4-178363650-GCGTCC-G
• gnomAD v4: 4-177442496-GCGTCC-G
• MyVariant Identifiers: chr4:g.178363651_178363655del (hg19) ; chr4:g.177442497_177442501del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442498_177442502del , CM000666.2:g.177442498_177442502del	GRCh38
NC_000004.11:g.178363652_178363656del , CM000666.1:g.178363652_178363656del	GRCh37
NC_000004.10:g.178600646_178600650del	NCBI36
NG_011845.2:g.5003_5007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.6:c.-126_-122del	ENSP00000264595.2:n.-126_-122del
NM_000027.3:c.-126_-122del	NP_000018.2:n.-126_-122del
NM_001171988.1:c.-126_-122del	NP_001165459.1:n.-126_-122del
NR_033655.1:n.3_7del
XM_006714123.2:c.-126_-122del	XP_006714186.1:n.-126_-122del