ClinGen Allele Registry
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Canonical Allele Identifier:
CA16047723
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.19060091A>C
GRCh38
chr1:g.19060091_19060131delinsCACCATGCCCCCACCCCCACTCCACCACAGATCCCAGGACC
GRCh37
chr1:g.19386585A>C
GRCh37
chr1:g.19386585_19386625delinsCACCATGCCCCCACCCCCACTCCACCACAGATCCCAGGACC
Linked Data - Sequence & Population
gnomAD v2:
1:19386585 A / C
gnomAD v3:
1:19060091 A / C
gnomAD v4:
chr1-19060091-A-C
Joint Max Group AF
0.42091333 (SAS)
Genomes Max Group AF
0.42091333 (SAS)
Linked Data - NCBI & NCI
dbSNP:
12123383
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.19060091A>C , CM000663.2:g.19060091A>C
GRCh38
NC_000001.10:g.19386585A>C , CM000663.1:g.19386585A>C
GRCh37
NC_000001.9:g.19259172A>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'