ClinGen Allele Registry
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Canonical Allele Identifier:
CA116349004
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.28339899_28339900del
GRCh38
chr5:g.28339897_28339898del
GRCh37
chr5:g.28340006_28340007del
GRCh37
chr5:g.28340004_28340005del
Linked Data - Sequence & Population
gnomAD v2:
5:28340003 TTC / T
gnomAD v3:
5:28339896 TTC / T
gnomAD v4:
chr5-28339896-TTC-T
Joint Max Group AF
0.79081474 (EAS)
Genomes Max Group AF
0.79081474 (EAS)
Linked Data - NCBI & NCI
dbSNP:
34215922
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.28339913_28339914del , CM000667.2:g.28339913_28339914del
GRCh38
NC_000005.9:g.28340020_28340021del , CM000667.1:g.28340020_28340021del
GRCh37
NC_000005.8:g.28375777_28375778del
NCBI36
Search 100 bp 5'
Search 100 bp 3'