×
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:
CA2790085666
Gene: CYP2E1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.133527042_133527043insGGA , CM000672.2:g.133527042_133527043insGGA
GRCh38
NC_000010.10:g.135340546_135340547insGGA , CM000672.1:g.135340546_135340547insGGA
GRCh37
NC_000010.9:g.135190536_135190537insGGA
NCBI36
NG_008383.1:g.4680_4681insGGA
Transcript Alleles
HGVS
Amino-acid change
ENST00000463117.6:c.-40+169_-40+170insGGA
ENSP00000440689.1:n.-40+169_-40+170insGGA
ENST00000541261.1:c.-40+169_-40+170insGGA
ENSP00000437799.1:n.-40+169_-40+170insGGA
Search 100 bp 5'
Search 100 bp 3'