×
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:
CA721212488
Gene:
Linked Data
dbSNP Id:
rs1211413413
MyVariant Identifiers:
chr16:g.49142525del (hg19)
chr16:g.49108614del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.49108614del , CM000678.2:g.49108614del
GRCh38
NC_000016.9:g.49142525del , CM000678.1:g.49142525del
GRCh37
NC_000016.8:g.47700026del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_933517.1:n.810+1330del
XR_001752138.2:n.591+5362del
XR_933517.2:n.810+1330del
Search 100 bp 5'
Search 100 bp 3'