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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:
CA535280779
Gene:
Linked Data
dbSNP Id:
rs1465111923
gnomAD v2:
2-118837190-GC-G
gnomAD v3:
2-118079614-GC-G
gnomAD v4:
2-118079614-GC-G
MyVariant Identifiers:
chr2:g.118837191del (hg19)
chr2:g.118079615del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.118079615del , CM000664.2:g.118079615del
GRCh38
NC_000002.11:g.118837191del , CM000664.1:g.118837191del
GRCh37
NC_000002.10:g.118553661del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011512305.1:c.697-2083del
XP_011510607.1:n.697-2083del
XR_001739662.2:n.138+8636del
Search 100 bp 5'
Search 100 bp 3'