ClinGen Allele Registry
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Canonical Allele Identifier:
CA810626879
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.40414863_40414883del
GRCh37
chr5:g.40414965_40414985del
Linked Data - Sequence & Population
gnomAD v3:
5:40414862 TGTTGTTGTGGTGGTGGTGGTG / T
gnomAD v4:
chr5-40414862-TGTTGTTGTGGTGGTGGTGGTG-T
Joint Max Group AF
0.00000489 (NFE)
Genomes Max Group AF
0.00000489 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1371573095
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.40414865_40414885del , CM000667.2:g.40414865_40414885del
GRCh38
NC_000005.9:g.40414967_40414987del , CM000667.1:g.40414967_40414987del
GRCh37
NC_000005.8:g.40450724_40450744del
NCBI36
Search 100 bp 5'
Search 100 bp 3'