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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_000017.11:g.30237256_30237299delinsGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGA , CM000679.2:g.30237256_30237299delinsGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGA
GRCh38
NC_000017.10:g.28564274_28564317delinsGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGA , CM000679.1:g.28564274_28564317delinsGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGA
GRCh37
NC_000017.9:g.25588400_25588443delinsGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGA
NCBI36
NG_011747.2:g.3638_3681delinsTCCCCTGCACCCCCAGCATCCCCCCTGCAGCCCTTCCAGCATCC
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+186_165+229delinsGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGA
XR_001752824.1:n.280+186_280+229delinsGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGA