×
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:
CA844313456
Gene:
Linked Data
dbSNP Id:
rs1473414981
gnomAD v3:
7-97388563-AT-A
gnomAD v4:
7-97388563-AT-A
MyVariant Identifiers:
chr7:g.97017876del (hg19)
chr7:g.97388564del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.97388564del , CM000669.2:g.97388564del
GRCh38
NC_000007.13:g.97017876del , CM000669.1:g.97017876del
GRCh37
NC_000007.12:g.96855812del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745293.1:n.127-59917del
Search 100 bp 5'
Search 100 bp 3'