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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
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Canonical Allele Identifier:
CA2634201962
Gene: DHODH
HGNC
NCBI
Linked Data
gnomAD v4:
16-72024612-CT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.72024613del , CM000678.2:g.72024613del
GRCh38
NC_000016.9:g.72058512del , CM000678.1:g.72058512del
GRCh37
NC_000016.8:g.70616013del
NCBI36
NG_016271.1:g.20870del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000219240.9:c.*414del
MANE Select
ENSP00000219240.4:n.*414del
ENST00000219240.8:c.*414del
ENSP00000219240.4:n.*414del
ENST00000572887.5:c.*414del
ENSP00000461848.1:n.*414del
NM_001361.4:c.*414del
NP_001352.2:n.*414del
XM_005255827.4:c.*414del
XP_005255884.1:n.*414del
XM_005255829.4:c.*414del
XP_005255886.1:n.*414del
XM_017022990.2:c.*414del
XP_016878479.1:n.*414del
NM_001361.5:c.*414del
MANE Select
NP_001352.2:n.*414del
Search 100 bp 5'
Search 100 bp 3'