ClinGen Allele Registry
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Canonical Allele Identifier:
CA117709562
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.40414866_40414871del
GRCh37
chr5:g.40414968_40414973del
Linked Data - Sequence & Population
gnomAD v3:
5:40414865 TGTTGTG / T
gnomAD v4:
chr5-40414865-TGTTGTG-T
Joint Max Group AF
0.00006267 (AFR)
Genomes Max Group AF
0.00006267 (AFR)
Linked Data - NCBI & NCI
dbSNP:
964996147
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.40414868_40414873del , CM000667.2:g.40414868_40414873del
GRCh38
NC_000005.9:g.40414970_40414975del , CM000667.1:g.40414970_40414975del
GRCh37
NC_000005.8:g.40450727_40450732del
NCBI36
Search 100 bp 5'
Search 100 bp 3'