Canonical Allele Identifier: CA747840064

Gene:

Linked Data

• dbSNP Id: rs1203928434
• gnomAD v3: 21-22259257-AG-A
• gnomAD v4: 21-22259257-AG-A
• MyVariant Identifiers: chr21:g.23631578del (hg19) ; chr21:g.22259258del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.22259260del , CM000683.2:g.22259260del	GRCh38
NC_000021.8:g.23631580del , CM000683.1:g.23631580del	GRCh37
NC_000021.7:g.22553451del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001754978.1:n.221+46447del