Allele Registry

Canonical Allele Identifier: CA117709555

Gene:

Linked Data - Expert Curation

COSMIC:

COSN20121998

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr5:g.40414858_40414860del

GRCh38 chr5:g.40414855_40414857del

GRCh37 chr5:g.40414960_40414962del

GRCh37 chr5:g.40414957_40414959del

Linked Data - Sequence & Population

gnomAD v2:

5:40414956 CTTG / C

gnomAD v3:

5:40414854 CTTG / C

gnomAD v4:

chr5-40414854-CTTG-C

Joint Max Group AF 0.3186896 (AFR)

Genomes Max Group AF 0.3186896 (AFR)

Linked Data - NCBI & NCI

dbSNP:

4016330

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40414868_40414870del , CM000667.2:g.40414868_40414870del	GRCh38
NC_000005.9:g.40414970_40414972del , CM000667.1:g.40414970_40414972del	GRCh37
NC_000005.8:g.40450727_40450729del	NCBI36

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