ClinGen Allele Registry
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Canonical Allele Identifier:
CA113505972
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.4196293del
GRCh37
chr5:g.4196406del
Linked Data - Sequence & Population
gnomAD v2:
5:4196405 AT / A
gnomAD v3:
5:4196292 AT / A
gnomAD v4:
chr5-4196292-AT-A
Joint Max Group AF
0.00007915 (NFE)
Genomes Max Group AF
0.00007915 (NFE)
Linked Data - NCBI & NCI
dbSNP:
34274343
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.4196299del , CM000667.2:g.4196299del
GRCh38
NC_000005.9:g.4196412del , CM000667.1:g.4196412del
GRCh37
NC_000005.8:g.4249412del
NCBI36
Search 100 bp 5'
Search 100 bp 3'