Canonical Allele Identifier: CA747840127

Gene:

Linked Data

• dbSNP Id: rs1276634635
• gnomAD v3: 21-22259371-A-AT
• gnomAD v4: 21-22259371-A-AT
• MyVariant Identifiers: chr21:g.23631691_23631692insT (hg19) ; chr21:g.22259371_22259372insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.22259377dup , CM000683.2:g.22259377dup	GRCh38
NC_000021.8:g.23631697dup , CM000683.1:g.23631697dup	GRCh37
NC_000021.7:g.22553568dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001754978.1:n.221+46564dup