ClinGen Allele Registry
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Canonical Allele Identifier:
CA12235281
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr6:g.44626422T>G
GRCh38
chr6:g.44626422_44626425delinsGAAC
GRCh37
chr6:g.44594159T>G
GRCh37
chr6:g.44594159_44594162delinsGAAC
Linked Data - Sequence & Population
gnomAD v2:
6:44594159 T / G
gnomAD v3:
6:44626422 T / G
gnomAD v4:
chr6-44626422-T-G
Joint Max Group AF
0.87827303 (AFR)
Genomes Max Group AF
0.87827303 (AFR)
Linked Data - NCBI & NCI
dbSNP:
556621
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.44626422T>G , CM000668.2:g.44626422T>G
GRCh38
NC_000006.11:g.44594159T>G , CM000668.1:g.44594159T>G
GRCh37
NC_000006.10:g.44702137T>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'