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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:
CA2523411190
Gene: FZD4
HGNC
NCBI
Linked Data
gnomAD v4:
11-86954765-AG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.86954769del , CM000673.2:g.86954769del
GRCh38
NC_000011.9:g.86665811del , CM000673.1:g.86665811del
GRCh37
NC_000011.8:g.86343459del
NCBI36
NG_011752.1:g.5626del
Transcript Alleles
HGVS
Amino-acid change
ENST00000531380.2:c.285+35del
MANE Select
ENSP00000434034.1:n.285+35del
ENST00000531380.1:c.285+35del
ENSP00000434034.1:n.285+35del
NM_012193.3:c.285+35del
NP_036325.2:n.285+35del
NM_012193.4:c.285+35del
MANE Select
NP_036325.2:n.285+35del
Search 100 bp 5'
Search 100 bp 3'