×
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:
CA1481405462
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.102499648_102499652delinsAGAGT , CM000666.2:g.102499648_102499652delinsAGAGT
GRCh38
NC_000004.11:g.103420805_103420809delinsAGAGT , CM000666.1:g.103420805_103420809delinsAGAGT
GRCh37
NC_000004.10:g.103639837_103639841delinsAGAGT
NCBI36
NG_050628.1:g.3320_3324delinsAGAGT
Transcript Alleles
HGVS
Amino-acid change
XM_011532467.1:c.643+1597_643+1601delinsACTCT
XP_011530769.1:n.643+1597_643+1601delinsA...
NR_136202.1:n.48+2787_48+2791delinsACTCT
Search 100 bp 5'
Search 100 bp 3'