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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:
CA2580082145
Gene: PTEN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1771406
ClinVar RCV Id:
RCV002396540
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.87863215_87864103del , CM000672.2:g.87863215_87864103del
GRCh38
NC_000010.10:g.89622972_89623860del , CM000672.1:g.89622972_89623860del
GRCh37
NC_000010.9:g.89612952_89613840del
NCBI36
NG_007466.2:g.4778_5666del , LRG_311:g.4778_5666del
NG_033079.1:g.4335_5223del
Transcript Alleles
HGVS
Amino-acid change
ENST00000706954.1:c.-17+573_-16-351del
ENSP00000516674.1:n.-17+573_-16-351del
ENST00000688308.1:c.-17+102_-16-351del
ENSP00000508752.1:n.-17+102_-16-351del
ENST00000371953.7:c.-1255_-367del
ENSP00000361021.3:n.-1255_-367del
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