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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
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Canonical Allele Identifier:
CA1316291460
Gene: STAT1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.191015689_191015690delinsTG , CM000664.2:g.191015689_191015690delinsTG
GRCh38
NC_000002.11:g.191880415_191880416delinsTG , CM000664.1:g.191880415_191880416delinsTG
GRCh37
NC_000002.10:g.191588660_191588661delinsTG
NCBI36
NG_008294.1:g.3561_3562delinsCA , LRG_111:g.3561_3562delinsCA
Transcript Alleles
HGVS
Amino-acid Change
ENST00000432058.1:c.-155-2012_-155-2011delinsCA
ENSP00000416019.1:n.-155-2012_-155-2011delinsCA
ENST00000454414.5:c.-2+4510_-2+4511delinsCA
ENSP00000411398.1:n.-2+4510_-2+4511delinsCA
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