Canonical Allele Identifier: CA318813256

Gene:

Linked Data

• dbSNP Id: rs925824458
• gnomAD v3: 21-22259285-GA-G
• gnomAD v4: 21-22259285-GA-G
• MyVariant Identifiers: chr21:g.23631606del (hg19) ; chr21:g.22259286del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.22259289del , CM000683.2:g.22259289del	GRCh38
NC_000021.8:g.23631609del , CM000683.1:g.23631609del	GRCh37
NC_000021.7:g.22553480del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001754978.1:n.221+46476del