×
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:
CA2695232188
Gene: NR0B1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.30308529del , CM000685.2:g.30308529del
GRCh38
NC_000023.10:g.30326646del , CM000685.1:g.30326646del
GRCh37
NC_000023.9:g.30236567del
NCBI36
NG_009814.1:g.5853del
Transcript Alleles
HGVS
Amino-acid change
ENST00000378970.5:c.838del
MANE Select
ENSP00000368253.4:p.Leu280TrpfsTer?
ENST00000378970.4:c.838del
ENSP00000368253.4:p.Leu280TrpfsTer?
NM_000475.4:c.838del
NP_000466.2:p.Leu280TrpfsTer?
NM_000475.5:c.838del
MANE Select
NP_000466.2:p.Leu280TrpfsTer?
Search 100 bp 5'
Search 100 bp 3'