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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:
CA699053933
Gene: OLFM4
HGNC
NCBI
Linked Data
dbSNP Id:
rs1193790491
gnomAD v3:
13-53051589-G-GT
gnomAD v4:
13-53051589-G-GT
MyVariant Identifiers:
chr13:g.53625724_53625725insT (hg19)
chr13:g.53051589_53051590insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.53051593dup , CM000675.2:g.53051593dup
GRCh38
NC_000013.10:g.53625728dup , CM000675.1:g.53625728dup
GRCh37
NC_000013.9:g.52523729dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000219022.3:c.*822dup
MANE Select
ENSP00000219022.2:n.*822dup
ENST00000219022.2:c.*822dup
ENSP00000219022.2:n.*822dup
NM_006418.4:c.*822dup
NP_006409.3:n.*822dup
NM_006418.5:c.*822dup
MANE Select
NP_006409.3:n.*822dup
Search 100 bp 5'
Search 100 bp 3'