×
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:
CA1080086714
Gene:
Linked Data
dbSNP Id:
rs1753797955
gnomAD v3:
5-111131659-TTC-T
gnomAD v4:
5-111131659-TTC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.111131661_111131662del , CM000667.2:g.111131661_111131662del
GRCh38
NC_000005.9:g.110467359_110467360del , CM000667.1:g.110467359_110467360del
GRCh37
NC_000005.8:g.110495258_110495259del
NCBI36
NG_008979.1:g.44490_44491del
Search 100 bp 5'
Search 100 bp 3'