×
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_000011.10:g.202800_202801insAGTGAATGAGGGAAGGGACAGGGTTTACAGCACCTGTGCCCATGGCCAGCCACGGGGTGAATGAGGGAAGGGACAGGGTTTACAGCACCTGTGCTCATGGCCAGCCACGG , CM000673.2:g.202800_202801insAGTGAATGAGGGAAGGGACAGGGTTTACAGCACCTGTGCCCATGGCCAGCCACGGGGTGAATGAGGGAAGGGACAGGGTTTACAGCACCTGTGCTCATGGCCAGCCACGG
GRCh38
NC_000011.9:g.202800_202801insAGTGAATGAGGGAAGGGACAGGGTTTACAGCACCTGTGCCCATGGCCAGCCACGGGGTGAATGAGGGAAGGGACAGGGTTTACAGCACCTGTGCTCATGGCCAGCCACGG , CM000673.1:g.202800_202801insAGTGAATGAGGGAAGGGACAGGGTTTACAGCACCTGTGCCCATGGCCAGCCACGGGGTGAATGAGGGAAGGGACAGGGTTTACAGCACCTGTGCTCATGGCCAGCCACGG
GRCh37
NC_000011.8:g.192800_192801insAGTGAATGAGGGAAGGGACAGGGTTTACAGCACCTGTGCCCATGGCCAGCCACGGGGTGAATGAGGGAAGGGACAGGGTTTACAGCACCTGTGCTCATGGCCAGCCACGG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000410108.5:c.168+2847_168+2848insTCCCTTCCCTCATTCACCCCGTGGCTGGCCATGGGCACAGGTGCTGTAAACCCTGTCCCTTCCCTCATTCACTCCGTGGCTGGCCATGAGCACAGGTGCTGTAAACCCTG
ENSP00000386558.1:n.168+2847_168+2848insT...