ClinGen Allele Registry
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Canonical Allele Identifier:
CA117709563
Gene:
Linked Data - Expert Curation
COSMIC:
COSN1316015
COSN1316016
COSN1316017
COSN1316018
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.40414867_40414868del
GRCh37
chr5:g.40414969_40414970del
Linked Data - Sequence & Population
gnomAD v2:
5:40414968 GTT / G
gnomAD v3:
5:40414866 GTT / G
gnomAD v4:
chr5-40414866-GTT-G
Joint Max Group AF
0.47225523 (MID)
Genomes Max Group AF
0.46033488 (NFE)
Linked Data - NCBI & NCI
dbSNP:
10596585
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.40414867_40414868del , CM000667.2:g.40414867_40414868del
GRCh38
NC_000005.9:g.40414969_40414970del , CM000667.1:g.40414969_40414970del
GRCh37
NC_000005.8:g.40450726_40450727del
NCBI36
Search 100 bp 5'
Search 100 bp 3'