ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA584988402
Gene:
Linked Data
dbSNP Id:
rs565955116
gnomAD v2:
8-126490901-T-TA
gnomAD v3:
8-125478659-T-TA
gnomAD v4:
8-125478659-T-TA
MyVariant Identifiers:
chr8:g.126490903_126490904insA (hg19)
chr8:g.126490901_126490902insA (hg19)
chr8:g.125478661_125478662insA (hg38)
chr8:g.125478659_125478660insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.125478670dup , CM000670.2:g.125478670dup
GRCh38
NC_000008.10:g.126490912dup , CM000670.1:g.126490912dup
GRCh37
NC_000008.9:g.126560094dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928628.1:n.256+5356dup
Search 100 bp 5'
Search 100 bp 3'