×
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:
CA283272821
Gene:
Linked Data
dbSNP Id:
rs5030625
gnomAD v2:
16-68770846-GA-G
gnomAD v3:
16-68736943-GA-G
gnomAD v4:
16-68736943-GA-G
COSMIC:
COSN15649178
MyVariant Identifiers:
chr16:g.68770847del (hg19)
chr16:g.68736944del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.68736944del , CM000678.2:g.68736944del
GRCh38
NC_000016.9:g.68770847del , CM000678.1:g.68770847del
GRCh37
NC_000016.8:g.67328348del
NCBI36
NG_008021.1:g.4653del , LRG_301:g.4653del
Search 100 bp 5'
Search 100 bp 3'