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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:
CA2589296091
Gene: USP9Y
HGNC
NCBI
Linked Data
dbSNP Id:
rs2053357614
gnomAD v3:
Y-12580157-AT-A
gnomAD v4:
Y-12580157-AT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12580164del , CM000686.2:g.12580164del
GRCh38
NC_000024.9:g.14692098del , CM000686.1:g.14692098del
GRCh37
NC_000024.8:g.13202118del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000457658.6:n.653+33914del
Search 100 bp 5'
Search 100 bp 3'