ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA127150
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr17:g.50203295del
GRCh37
chr17:g.48280656del
Linked Data - Sequence & Population
gnomAD v2:
17:48280655 GA / G
gnomAD v3:
17:50203294 GA / G
gnomAD v4:
chr17-50203294-GA-G
Joint Max Group AF
0.19421462 (NFE)
Genomes Max Group AF
0.19421462 (NFE)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000018883
ClinVar Variation:
17342
dbSNP:
11327935
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.50203302del , CM000679.2:g.50203302del
GRCh38
NC_000017.10:g.48280663del , CM000679.1:g.48280663del
GRCh37
NC_000017.9:g.45635662del
NCBI36
NG_007400.1:g.3345del , LRG_1:g.3345del
Search 100 bp 5'
Search 100 bp 3'