ClinGen Allele Registry
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Canonical Allele Identifier:
CA112916354
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.1296140_1296141insG
GRCh37
chr5:g.1296255_1296256insG
Linked Data - Sequence & Population
gnomAD v2:
5:1296255 A / AG
gnomAD v3:
5:1296140 A / AG
gnomAD v4:
chr5-1296140-A-AG
Joint Max Group AF
0.50804664 (SAS)
Genomes Max Group AF
0.50804664 (SAS)
Linked Data - NCBI & NCI
dbSNP:
3215401
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1296144dup , CM000667.2:g.1296144dup
GRCh38
NC_000005.9:g.1296259dup , CM000667.1:g.1296259dup
GRCh37
NC_000005.8:g.1349259dup
NCBI36
NG_009265.1:g.3907dup , LRG_343:g.3907dup
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