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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:
CA1814482781
Gene: TNFRSF11B
HGNC
NCBI
Linked Data
dbSNP Id:
rs1388279435
gnomAD v3:
8-118947604-T-TA
gnomAD v4:
8-118947604-T-TA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.118947611dup , CM000670.2:g.118947611dup
GRCh38
NC_000008.10:g.119959850dup , CM000670.1:g.119959850dup
GRCh37
NC_000008.9:g.120029031dup
NCBI36
NG_012202.1:g.9540dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000297350.9:c.30+4187dup
MANE Select
ENSP00000297350.4:n.30+4187dup
ENST00000297350.8:c.30+4187dup
ENSP00000297350.4:n.30+4187dup
ENST00000517352.1:c.30+4187dup
ENSP00000427924.1:n.30+4187dup
NM_002546.3:c.30+4187dup
NP_002537.3:n.30+4187dup
NM_002546.4:c.30+4187dup
MANE Select
NP_002537.3:n.30+4187dup
Search 100 bp 5'
Search 100 bp 3'