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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_000006.12:g.105805157_105805158insGCATAAGGGAATAGAGAGACATTGGAAAATTATAAGTGCTGCCTGTG , CM000668.2:g.105805157_105805158insGCATAAGGGAATAGAGAGACATTGGAAAATTATAAGTGCTGCCTGTG
GRCh38
NC_000006.11:g.106253032_106253033insGCATAAGGGAATAGAGAGACATTGGAAAATTATAAGTGCTGCCTGTG , CM000668.1:g.106253032_106253033insGCATAAGGGAATAGAGAGACATTGGAAAATTATAAGTGCTGCCTGTG
GRCh37
NC_000006.10:g.106359725_106359726insGCATAAGGGAATAGAGAGACATTGGAAAATTATAAGTGCTGCCTGTG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_942835.1:n.510+24899_510+24900insCACAGGCAGCACTTATAATTTTCCAATGTCTCTCTATTCCCTTATGC
XR_001744274.1:n.438+24899_438+24900insCACAGGCAGCACTTATAATTTTCCAATGTCTCTCTATTCCCTTATGC
XR_001744275.1:n.337+24899_337+24900insCACAGGCAGCACTTATAATTTTCCAATGTCTCTCTATTCCCTTATGC