Allele Registry

Canonical Allele Identifier: CA117709564

Gene:

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr5:g.40414868T>G

GRCh38 chr5:g.40414868_40414874delinsGGTGGTG

GRCh37 chr5:g.40414970T>G

GRCh37 chr5:g.40414970_40414976delinsGGTGGTG

Linked Data - Sequence & Population

gnomAD v2:

5:40414970 T / G

gnomAD v3:

5:40414868 T / G

gnomAD v4:

chr5-40414868-T-G

Joint Max Group AF 0.24343652 (AMR)

Genomes Max Group AF 0.24343652 (AMR)

Linked Data - NCBI & NCI

dbSNP:

66668703

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40414868T>G , CM000667.2:g.40414868T>G	GRCh38
NC_000005.9:g.40414970T>G , CM000667.1:g.40414970T>G	GRCh37
NC_000005.8:g.40450727T>G	NCBI36

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