Allele Registry

Canonical Allele Identifier: CA559271197

Gene:

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr5:g.40414860_40414861insTTG

GRCh38 chr5:g.40414854_40414855insTTG

GRCh37 chr5:g.40414962_40414963insTTG

GRCh37 chr5:g.40414956_40414957insTTG

Linked Data - Sequence & Population

gnomAD v2:

5:40414956 C / CTTG

gnomAD v3:

5:40414854 C / CTTG

gnomAD v4:

chr5-40414854-C-CTTG

Joint Max Group AF 0.00311269 (AFR)

Genomes Max Group AF 0.00311269 (AFR)

Linked Data - NCBI & NCI

dbSNP:

4016330

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40414868_40414870dup , CM000667.2:g.40414868_40414870dup	GRCh38
NC_000005.9:g.40414970_40414972dup , CM000667.1:g.40414970_40414972dup	GRCh37
NC_000005.8:g.40450727_40450729dup	NCBI36

Search 100 bp 5'

Search 100 bp 3'