Canonical Allele Identifier: CA318813255

Gene:

Linked Data

• dbSNP Id: rs977304931
• gnomAD v3: 21-22259276-AT-A
• gnomAD v4: 21-22259276-AT-A
• MyVariant Identifiers: chr21:g.23631597del (hg19) ; chr21:g.22259277del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.22259282del , CM000683.2:g.22259282del	GRCh38
NC_000021.8:g.23631602del , CM000683.1:g.23631602del	GRCh37
NC_000021.7:g.22553473del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001754978.1:n.221+46469del