×
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:
CA1541513134
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.41107283_41107284delinsGA , CM000667.2:g.41107283_41107284delinsGA
GRCh38
NC_000005.9:g.41107385_41107386delinsGA , CM000667.1:g.41107385_41107386delinsGA
GRCh37
NC_000005.8:g.41143142_41143143delinsGA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_925944.1:n.618-5345_618-5344delinsGA
XR_925945.1:n.125-5345_125-5344delinsGA
XR_925946.1:n.576-5345_576-5344delinsGA
XR_925948.1:n.618-5345_618-5344delinsGA
XR_001742650.1:n.618-5345_618-5344delinsGA
XR_001742651.1:n.131-5345_131-5344delinsGA
Search 100 bp 5'
Search 100 bp 3'