ClinGen Allele Registry
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Canonical Allele Identifier:
CA105233272
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.122590016_122590017insA
GRCh37
chr4:g.123511171_123511172insA
Linked Data - Sequence & Population
gnomAD v2:
4:123511171 T / TA
gnomAD v3:
4:122590016 T / TA
gnomAD v4:
chr4-122590016-T-TA
Joint Max Group AF
0.00000488 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Linked Data - NCBI & NCI
dbSNP:
781675846
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.122590023dup , CM000666.2:g.122590023dup
GRCh38
NC_000004.11:g.123511178dup , CM000666.1:g.123511178dup
GRCh37
NC_000004.10:g.123730628dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'