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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:
CA1316291007
Gene: STAT1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.191014681_191014683delinsAAC , CM000664.2:g.191014681_191014683delinsAAC
GRCh38
NC_000002.11:g.191879407_191879409delinsAAC , CM000664.1:g.191879407_191879409delinsAAC
GRCh37
NC_000002.10:g.191587652_191587654delinsAAC
NCBI36
NG_008294.1:g.4568_4570delinsGTT , LRG_111:g.4568_4570delinsGTT
Transcript Alleles
HGVS
Amino-acid change
ENST00000432058.1:c.-155-1005_-155-1003delinsGTT
ENSP00000416019.1:n.-155-1005_-155-1003delinsGTT
ENST00000454414.5:c.-1-4679_-1-4677delinsGTT
ENSP00000411398.1:n.-1-4679_-1-4677delinsGTT
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