×
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:
CA465892683
Gene:
Linked Data
dbSNP Id:
rs1312769691
gnomAD v2:
9-86741427-T-TGTGGGGCTTAACACCTAGGTGAGAGGTTGACAG
gnomAD v3:
9-84126512-T-TGTGGGGCTTAACACCTAGGTGAGAGGTTGACAG
gnomAD v4:
9-84126512-T-TGTGGGGCTTAACACCTAGGTGAGAGGTTGACAG
MyVariant Identifiers:
chr9:g.86741460_86741461insGTGGGGCTTAACACCTAGGTGAGAGGTTGACAG (hg19)
chr9:g.86741427_86741428insGTGGGGCTTAACACCTAGGTGAGAGGTTGACAG (hg19)
chr9:g.84126545_84126546insGTGGGGCTTAACACCTAGGTGAGAGGTTGACAG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.84126549_84126581dup , CM000671.2:g.84126549_84126581dup
GRCh38
NC_000009.11:g.86741464_86741496dup , CM000671.1:g.86741464_86741496dup
GRCh37
NC_000009.10:g.85931284_85931316dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'