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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:
CA1316291478
Gene: STAT1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.191015734_191015738delinsATGTG , CM000664.2:g.191015734_191015738delinsATGTG
GRCh38
NC_000002.11:g.191880460_191880464delinsATGTG , CM000664.1:g.191880460_191880464delinsATGTG
GRCh37
NC_000002.10:g.191588705_191588709delinsATGTG
NCBI36
NG_008294.1:g.3513_3517delinsCACAT , LRG_111:g.3513_3517delinsCACAT
Transcript Alleles
HGVS
Amino-acid change
ENST00000432058.1:c.-155-2060_-155-2056delinsCACAT
ENSP00000416019.1:n.-155-2060_-155-2056delinsCACAT
ENST00000454414.5:c.-2+4462_-2+4466delinsCACAT
ENSP00000411398.1:n.-2+4462_-2+4466delinsCACAT
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