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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.
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.22325619_22325620insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC , CM000686.2:g.22325619_22325620insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC
GRCh38
NC_000024.9:g.24471766_24471767insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC , CM000686.1:g.24471766_24471767insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC
GRCh37
NC_000024.8:g.22881154_22881155insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000414629.6:c.-5+16649_-5+16650insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC
ENSP00000405745.2:n.-5+16649_-5+16650insG...
ENST00000445779.6:c.-5+16649_-5+16650insGCCAGCGTCAAATCTTCGCCATCATGTCGCGCCGCTTTTTCGTTGCCGATCAGCTTAGCAATTGCTTGCCGTTTCTCGAATTCATTTTCGCCGTAAAAAAGGTAAATCACTTCGCCTCCACTTGGCAAAC
ENSP00000389621.2:n.-5+16649_-5+16650insG...