Canonical Allele Identifier: CA748774650

Gene:

Linked Data

• dbSNP Id: rs1189046319
• gnomAD v3: 21-32890312-GC-G
• gnomAD v4: 21-32890312-GC-G
• MyVariant Identifiers: chr21:g.34262621del (hg19) ; chr21:g.32890313del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.32890315del , CM000683.2:g.32890315del	GRCh38
NC_000021.8:g.34262623del , CM000683.1:g.34262623del	GRCh37
NC_000021.7:g.33184493del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_937669.1:n.460-3263del
XR_937669.2:n.1038-3263del