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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.30237246_30237288delinsAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGG , CM000679.2:g.30237246_30237288delinsAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGG
GRCh38
NC_000017.10:g.28564264_28564306delinsAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGG , CM000679.1:g.28564264_28564306delinsAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGG
GRCh37
NC_000017.9:g.25588390_25588432delinsAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGG
NCBI36
NG_011747.2:g.3649_3691delinsCCCAGCATCCCCCCTGCAGCCCTTCCAGCATCCCCCTGCACCT
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+176_165+218delinsAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGG
XR_001752824.1:n.280+176_280+218delinsAGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGG