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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:
CA775764306
Gene: FN3KRP
HGNC
NCBI
Linked Data
dbSNP Id:
rs1174392758
gnomAD v3:
17-82727682-T-TC
gnomAD v4:
17-82727682-T-TC
MyVariant Identifiers:
chr17:g.80685558_80685559insC (hg19)
chr17:g.82727682_82727683insC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.82727683dup , CM000679.2:g.82727683dup
GRCh38
NC_000017.10:g.80685559dup , CM000679.1:g.80685559dup
GRCh37
NC_000017.9:g.78278848dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000269373.11:c.*512dup
MANE Select
ENSP00000269373.6:n.*512dup
ENST00000269373.10:c.*512dup
ENSP00000269373.6:n.*512dup
ENST00000571594.1:c.53+516dup
ENSP00000459751.1:n.53+516dup
NM_024619.3:c.*512dup
NP_078895.2:n.*512dup
NR_046408.1:n.1620dup
XM_024450948.1:c.*512dup
XP_024306716.1:n.*512dup
NM_024619.4:c.*512dup
MANE Select
NP_078895.2:n.*512dup
NR_046408.2:n.1620dup
Search 100 bp 5'
Search 100 bp 3'