×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA641831581
Gene:
Linked Data
dbSNP Id:
rs1569553053
gnomAD v2:
X-51241708-CCTCT-C
gnomAD v3:
X-51498856-CCTCT-C
gnomAD v4:
X-51498856-CCTCT-C
MyVariant Identifiers:
chrX:g.51241709_51241712del (hg19)
chrX:g.51498857_51498860del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.51498863_51498866del , CM000685.2:g.51498863_51498866del
GRCh38
NC_000023.10:g.51241715_51241718del , CM000685.1:g.51241715_51241718del
GRCh37
NC_000023.9:g.51258455_51258458del
NCBI36
Search 100 bp 5'
Search 100 bp 3'