ClinGen Allele Registry
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Canonical Allele Identifier:
CA584988403
Gene:
Linked Data
dbSNP Id:
rs1410044222
gnomAD v2:
8-126490930-CG-C
gnomAD v3:
8-125478688-CG-C
gnomAD v4:
8-125478688-CG-C
MyVariant Identifiers:
chr8:g.126490931del (hg19)
chr8:g.125478689del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.125478689del , CM000670.2:g.125478689del
GRCh38
NC_000008.10:g.126490931del , CM000670.1:g.126490931del
GRCh37
NC_000008.9:g.126560113del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928628.1:n.256+5375del
Search 100 bp 5'
Search 100 bp 3'