×
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:
CA2601829686
Gene:
Linked Data
dbSNP Id:
rs2127969080
gnomAD v3:
6-98014429-CT-C
gnomAD v4:
6-98014429-CT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.98014431del , CM000668.2:g.98014431del
GRCh38
NC_000006.11:g.98462307del , CM000668.1:g.98462307del
GRCh37
NC_000006.10:g.98569028del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_245563.2:n.371+44965del
XR_942809.1:n.371+44965del
Search 100 bp 5'
Search 100 bp 3'