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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:
CA609999848
Gene: OLFM4
HGNC
NCBI
Linked Data
dbSNP Id:
rs1347426106
gnomAD v2:
13-53625710-T-TA
gnomAD v3:
13-53051575-T-TA
gnomAD v4:
13-53051575-T-TA
MyVariant Identifiers:
chr13:g.53625710_53625711insA (hg19)
chr13:g.53051575_53051576insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.53051582dup , CM000675.2:g.53051582dup
GRCh38
NC_000013.10:g.53625717dup , CM000675.1:g.53625717dup
GRCh37
NC_000013.9:g.52523718dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000219022.3:c.*811dup
MANE Select
ENSP00000219022.2:n.*811dup
ENST00000219022.2:c.*811dup
ENSP00000219022.2:n.*811dup
NM_006418.4:c.*811dup
NP_006409.3:n.*811dup
NM_006418.5:c.*811dup
MANE Select
NP_006409.3:n.*811dup
Search 100 bp 5'
Search 100 bp 3'