×
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:
CA982865890
Gene:
Linked Data
gnomAD v3:
17-30237252-AGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAG-A
gnomAD v4:
17-30237252-AGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237256_30237298del , CM000679.2:g.30237256_30237298del
GRCh38
NC_000017.10:g.28564274_28564316del , CM000679.1:g.28564274_28564316del
GRCh37
NC_000017.9:g.25588400_25588442del
NCBI36
NG_011747.2:g.3642_3684del
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+186_165+228del
XR_001752824.1:n.280+186_280+228del
Search 100 bp 5'
Search 100 bp 3'