×
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:
CA1595158924
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.159580607_159580620delinsTGCCACACTCCACA , CM000667.2:g.159580607_159580620delinsTGCCACACTCCACA
GRCh38
NC_000005.9:g.159007615_159007628delinsTGCCACACTCCACA , CM000667.1:g.159007615_159007628delinsTGCCACACTCCACA
GRCh37
NC_000005.8:g.158940193_158940206delinsTGCCACACTCCACA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_941139.1:n.2075+172_2075+185delinsTGCCACACTCCACA
XR_941140.1:n.2075+172_2075+185delinsTGCCACACTCCACA
XR_941141.1:n.570+172_570+185delinsTGCCACACTCCACA
XR_941139.2:n.2229+172_2229+185delinsTGCCACACTCCACA
Search 100 bp 5'
Search 100 bp 3'