ClinGen Allele Registry
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Canonical Allele Identifier:
CA117709556
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.40414855_40414860del
GRCh37
chr5:g.40414957_40414962del
Linked Data - Sequence & Population
gnomAD v2:
5:40414956 CTTGTTG / C
gnomAD v3:
5:40414854 CTTGTTG / C
gnomAD v4:
chr5-40414854-CTTGTTG-C
Joint Max Group AF
0.00001576 (NFE)
Genomes Max Group AF
0.00001576 (NFE)
Linked Data - NCBI & NCI
dbSNP:
4016330
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.40414865_40414870del , CM000667.2:g.40414865_40414870del
GRCh38
NC_000005.9:g.40414967_40414972del , CM000667.1:g.40414967_40414972del
GRCh37
NC_000005.8:g.40450724_40450729del
NCBI36
Search 100 bp 5'
Search 100 bp 3'