ClinGen Allele Registry
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Canonical Allele Identifier:
CA331777113
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrX:g.80014183G>A
GRCh38
chrX:g.80014183_80014185delinsATA
GRCh37
chrX:g.79269682G>A
GRCh37
chrX:g.79269682_79269684delinsATA
Linked Data - Sequence & Population
gnomAD v2:
X:79269682 G / A
gnomAD v3:
X:80014183 G / A
gnomAD v4:
chrX-80014183-G-A
Joint Max Group AF
0.46612445 (EAS)
Genomes Max Group AF
0.46612445 (EAS)
Linked Data - NCBI & NCI
dbSNP:
7055763
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.80014183G>A , CM000685.2:g.80014183G>A
GRCh38
NC_000023.10:g.79269682G>A , CM000685.1:g.79269682G>A
GRCh37
NC_000023.9:g.79156338G>A
NCBI36
NG_008998.1:g.4428G>A
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