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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_000022.11:g.43998570_43998571insGACCCCACCTTTCCTGGTGAGTAACTGGTCCTTCTAAGCCCAGACGAGCGATC , CM000684.2:g.43998570_43998571insGACCCCACCTTTCCTGGTGAGTAACTGGTCCTTCTAAGCCCAGACGAGCGATC
GRCh38
NC_000022.10:g.44394450_44394451insGACCCCACCTTTCCTGGTGAGTAACTGGTCCTTCTAAGCCCAGACGAGCGATC , CM000684.1:g.44394450_44394451insGACCCCACCTTTCCTGGTGAGTAACTGGTCCTTCTAAGCCCAGACGAGCGATC
GRCh37
NC_000022.9:g.42725783_42725784insGACCCCACCTTTCCTGGTGAGTAACTGGTCCTTCTAAGCCCAGACGAGCGATC
NCBI36
NG_029743.1:g.4360_4361insGACCCCACCTTTCCTGGTGAGTAACTGGTCCTTCTAAGCCCAGACGAGCGATC
NG_029743.2:g.4360_4361insGACCCCACCTTTCCTGGTGAGTAACTGGTCCTTCTAAGCCCAGACGAGCGATC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000465768.1:n.79+8164_79+8165insGACCCCACCTTTCCTGGTGAGTAACTGGTCCTTCTAAGCCCAGACGAGCGATC