ClinGen Allele Registry
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Canonical Allele Identifier:
CA772779378
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr17:g.50203294_50203295insA
GRCh37
chr17:g.48280655_48280656insA
Linked Data - Sequence & Population
gnomAD v3:
17:50203294 G / GA
gnomAD v4:
chr17-50203294-G-GA
Joint Max Group AF
0.00000489 (NFE)
Genomes Max Group AF
0.00000489 (NFE)
Linked Data - NCBI & NCI
dbSNP:
11327935
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.50203302dup , CM000679.2:g.50203302dup
GRCh38
NC_000017.10:g.48280663dup , CM000679.1:g.48280663dup
GRCh37
NC_000017.9:g.45635662dup
NCBI36
NG_007400.1:g.3345dup , LRG_1:g.3345dup
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