×
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:
CA1962313223
Gene: THEM7P
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.32342664_32342665delinsCT , CM000673.2:g.32342664_32342665delinsCT
GRCh38
NC_000011.9:g.32364210_32364211delinsCT , CM000673.1:g.32364210_32364211delinsCT
GRCh37
NC_000011.8:g.32320786_32320787delinsCT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000525689.2:n.122+623_122+624delinsAG
ENST00000525689.1:n.122+623_122+624delinsAG
Search 100 bp 5'
Search 100 bp 3'