ClinGen Allele Registry
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Canonical Allele Identifier:
CA116349007
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.28339914_28339915del
GRCh37
chr5:g.28340021_28340022del
Linked Data - Sequence & Population
gnomAD v2:
5:28340020 TCA / T
gnomAD v3:
5:28339913 TCA / T
gnomAD v4:
chr5-28339913-TCA-T
Joint Max Group AF
0.00009073 (NFE)
Genomes Max Group AF
0.00009073 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1031954933
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.28339922_28339923del , CM000667.2:g.28339922_28339923del
GRCh38
NC_000005.9:g.28340029_28340030del , CM000667.1:g.28340029_28340030del
GRCh37
NC_000005.8:g.28375786_28375787del
NCBI36
Search 100 bp 5'
Search 100 bp 3'