×
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:
CA1800733873
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.88535755_88535759delinsTAATC , CM000670.2:g.88535755_88535759delinsTAATC
GRCh38
NC_000008.10:g.89547984_89547988delinsTAATC , CM000670.1:g.89547984_89547988delinsTAATC
GRCh37
NC_000008.9:g.89617100_89617104delinsTAATC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745651.2:n.1673+10758_1673+10762delinsGATTA
XR_001745653.2:n.286-6925_286-6921delinsTAATC
XR_928383.3:n.1475+10758_1475+10762delinsGATTA
Search 100 bp 5'
Search 100 bp 3'