×
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:
CA119095524
Gene:
Linked Data
dbSNP Id:
rs980387633
gnomAD v4:
5-53560521-CTCT-C
MyVariant Identifiers:
chr5:g.52856352_52856354del (hg19)
chr5:g.53560522_53560524del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.53560523_53560525del , CM000667.2:g.53560523_53560525del
GRCh38
NC_000005.9:g.52856353_52856355del , CM000667.1:g.52856353_52856355del
GRCh37
NC_000005.8:g.52892110_52892112del
NCBI36
NG_008200.1:g.4889_4891del
Search 100 bp 5'
Search 100 bp 3'