×
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:
CA1108522390
Gene:
Linked Data
gnomAD v3:
7-148560761-GAA-G
gnomAD v4:
7-148560761-GAA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.148560770_148560771del , CM000669.2:g.148560770_148560771del
GRCh38
NC_000007.13:g.148257862_148257863del , CM000669.1:g.148257862_148257863del
GRCh37
NC_000007.12:g.147888795_147888796del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928099.1:n.300+7337_300+7338del
XR_928100.1:n.433+7337_433+7338del
Search 100 bp 5'
Search 100 bp 3'